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1
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Hirsch K, Cubbidge RP, Heitmar R. Dual wavelength retinal vessel oximetry - influence of fundus pigmentation. Eye (Lond) 2023; 37:2246-2251. [PMID: 36460856 PMCID: PMC9716545 DOI: 10.1038/s41433-022-02325-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/10/2022] [Accepted: 11/17/2022] [Indexed: 12/05/2022] Open
Abstract
BACKGROUND Clinical methods examining oxygenation parameters in humans have been used in many different care settings, but concerns have been raised regarding their clinical utility when assessing people with darker skin pigmentation. While saturation values can be crucial in emergency medicine, they are equally valuable in assessing disease mechanisms and monitoring change in disease progression. Retinal pigmentation varies across individuals and hence, can impact on retinal oxygen parameters. The objective of this study was to quantify and eliminate the impact of retinal pigmentation on retinal vessel oxygen saturation parameters measured in the superficial retinal arterioles and venules. METHODS 105 healthy individuals of varying skin colour, iris colour and heritage were included. Following a full eye exam to exclude any ocular abnormality, all participants underwent intraocular pressure, systemic blood pressure measurements and dilated dual wavelength retinal photography. Rotation matrices were employed to minimise the dependency of retinal pigmentation on arterial and venous oxygen saturation measurements determined in a concentric measurement annulus. RESULTS Retinal oxygen saturation in venules showed a linear correlation with retinal pigmentation (y = 0.34 × x + 38.598), whereas arterial saturation followed a polynomial pattern (y = 0.0089 × x2 + 0.7499 × x + 85.073). Both arterial and venous saturation values were corrected using local fundus pigmentation. Pre-correction retinal arterial and venous oxygen saturation were 89.0% (±13.1) and 43.7% (±11.5), respectively, and post- correction values were 94.8% (±8.7) for arteries and 56.3% (±7.0) veins. CONCLUSIONS When assessing multi-ethnic cohorts, it is important to consider the impact of pigmentation on imaging parameters and to account for it prior to clinical interpretation.
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Affiliation(s)
- Katrin Hirsch
- The University of the West of England, School of Health and Social Wellbeing, Glenside Campus, Bristol, BS16 1DD, UK.
| | - Robert P Cubbidge
- ABDO College, Godmersham Park, Canterbury, Kent, CT4 7DT, UK
- Aston University, Aston Triangle, Birmingham, B4 7ET, UK
| | - Rebekka Heitmar
- University of Huddersfield, School of Applied Sciences, Centre for Vision across the Life Span, Queensgate, HD1 3DH, UK.
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2
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Siddappa M, Hussain S, Wani SA, White J, Tang H, Gray JS, Jafari H, Wu HC, Long MD, Elhussin I, Karanam B, Wang H, Morgan R, Hardiman G, Adelani IB, Rotimi SO, Murphy AR, Nonn L, Davis MB, Kittles RA, Hughes Halbert C, Sucheston-Campbell LE, Yates C, Campbell MJ. African American Prostate Cancer Displays Quantitatively Distinct Vitamin D Receptor Cistrome-transcriptome Relationships Regulated by BAZ1A. CANCER RESEARCH COMMUNICATIONS 2023; 3:621-639. [PMID: 37082578 PMCID: PMC10112383 DOI: 10.1158/2767-9764.crc-22-0389] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 09/30/2022] [Revised: 01/12/2023] [Accepted: 03/07/2023] [Indexed: 04/22/2023]
Abstract
African American (AA) prostate cancer associates with vitamin D3 deficiency, but vitamin D receptor (VDR) genomic actions have not been investigated in this context. We undertook VDR proteogenomic analyses in European American (EA) and AA prostate cell lines and four clinical cohorts. Rapid immunoprecipitation mass spectrometry of endogenous protein (RIME) analyses revealed that nonmalignant AA RC43N prostate cells displayed the greatest dynamic protein content in the VDR complex. Likewise, in AA cells, Assay for Transposase-Accessible Chromatin using sequencing established greater 1α,25(OH)2D3-regulated chromatin accessibility, chromatin immunoprecipitation sequencing revealed significant enhancer-enriched VDR cistrome, and RNA sequencing identified the largest 1α,25(OH)2D3-dependent transcriptome. These VDR functions were significantly corrupted in the isogenic AA RC43T prostate cancer cells, and significantly distinct from EA cell models. We identified reduced expression of the chromatin remodeler, BAZ1A, in three AA prostate cancer cohorts as well as RC43T compared with RC43N. Restored BAZ1A expression significantly increased 1α,25(OH)2D3-regulated VDR-dependent gene expression in RC43T, but not HPr1AR or LNCaP cells. The clinical impact of VDR cistrome-transcriptome relationships were tested in three different clinical prostate cancer cohorts. Strikingly, only in AA patients with prostate cancer, the genes bound by VDR and/or associated with 1α,25(OH)2D3-dependent open chromatin (i) predicted progression from high-grade prostatic intraepithelial neoplasia to prostate cancer; (ii) responded to vitamin D3 supplementation in prostate cancer tumors; (iii) differentially responded to 25(OH)D3 serum levels. Finally, partial correlation analyses established that BAZ1A and components of the VDR complex identified by RIME significantly strengthened the correlation between VDR and target genes in AA prostate cancer only. Therefore, VDR transcriptional control is most potent in AA prostate cells and distorted through a BAZ1A-dependent control of VDR function. Significance Our study identified that genomic ancestry drives the VDR complex composition, genomic distribution, and transcriptional function, and is disrupted by BAZ1A and illustrates a novel driver for AA prostate cancer.
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Affiliation(s)
- Manjunath Siddappa
- Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio
| | - Shahid Hussain
- Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio
| | - Sajad A. Wani
- Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio
| | - Jason White
- Department of Biology and Center for Cancer Research, Tuskegee University, Tuskegee, Alabama
| | - Hancong Tang
- Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio
| | - Jaimie S. Gray
- Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio
| | - Hedieh Jafari
- Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio
| | - Hsu-Chang Wu
- Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio
| | - Mark D. Long
- Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, New York
| | - Isra Elhussin
- Department of Biology and Center for Cancer Research, Tuskegee University, Tuskegee, Alabama
| | - Balasubramanyam Karanam
- Department of Biology and Center for Cancer Research, Tuskegee University, Tuskegee, Alabama
| | - Honghe Wang
- Department of Biology and Center for Cancer Research, Tuskegee University, Tuskegee, Alabama
| | - Rebecca Morgan
- School of Biological Sciences, Institute for Global Food Security, Queen's University Belfast, Belfast, United Kingdom
| | - Gary Hardiman
- School of Biological Sciences, Institute for Global Food Security, Queen's University Belfast, Belfast, United Kingdom
- Department of Medicine, Medical University of South Carolina, Charleston, South Carolina
| | | | - Solomon O. Rotimi
- Department of Biochemistry, Covenant University, Ota, Ogun State, Nigeria
| | - Adam R. Murphy
- Department of Urology, Northwestern Medicine, Chicago, Illinois
| | - Larisa Nonn
- Department of Pathology, University of Illinois at Chicago, Chicago, Illinois
| | - Melissa B. Davis
- Department of Surgery, Weill Cornell Medicine, New York City, New York
| | - Rick A. Kittles
- Division of Health Equities, Department of Population Sciences, City of Hope, Duarte, California
| | - Chanita Hughes Halbert
- Department of Population and Public Health Sciences, University of Southern California, Los Angeles, California
- Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, California
| | - Lara E. Sucheston-Campbell
- Division of Pharmacy Practice and Science, College of Pharmacy, The Ohio State University, Columbus, Ohio
- Department of Veterinary Biosciences, College of Veterinary Medicine, The Ohio State University, Columbus, Ohio
| | - Clayton Yates
- Department of Biology and Center for Cancer Research, Tuskegee University, Tuskegee, Alabama
- Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland
- Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland
- Department of Oncology Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland
| | - Moray J. Campbell
- Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio
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3
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Hussain S, Yates C, Campbell MJ. Vitamin D and Systems Biology. Nutrients 2022; 14:5197. [PMID: 36558356 PMCID: PMC9782494 DOI: 10.3390/nu14245197] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/26/2022] [Revised: 11/28/2022] [Accepted: 12/01/2022] [Indexed: 12/12/2022] Open
Abstract
The biological actions of the vitamin D receptor (VDR) have been investigated intensively for over 100 years and has led to the identification of significant insights into the repertoire of its biological actions. These were initially established to be centered on the regulation of calcium transport in the colon and deposition in bone. Beyond these well-known calcemic roles, other roles have emerged in the regulation of cell differentiation processes and have an impact on metabolism. The purpose of the current review is to consider where applying systems biology (SB) approaches may begin to generate a more precise understanding of where the VDR is, and is not, biologically impactful. Two SB approaches have been developed and begun to reveal insight into VDR biological functions. In a top-down SB approach genome-wide scale data are statistically analyzed, and from which a role for the VDR emerges in terms of being a hub in a biological network. Such approaches have confirmed significant roles, for example, in myeloid differentiation and the control of inflammation and innate immunity. In a bottom-up SB approach, current biological understanding is built into a kinetic model which is then applied to existing biological data to explain the function and identify unknown behavior. To date, this has not been applied to the VDR, but has to the related ERα and identified previously unknown mechanisms of control. One arena where applying top-down and bottom-up SB approaches may be informative is in the setting of prostate cancer health disparities.
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Affiliation(s)
- Shahid Hussain
- Division of Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy, The Ohio State University, Columbus, OH 43210, USA
| | - Clayton Yates
- Department of Biology and Center for Cancer Research, Tuskegee University, Tuskegee, AL 36088, USA
- Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
- Department of Oncology Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
| | - Moray J. Campbell
- Division of Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy, The Ohio State University, Columbus, OH 43210, USA
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4
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Peer RP, Burli A, Maibach HI. Did human evolution in skin of color enhance the TEWL barrier? Arch Dermatol Res 2022; 314:121-132. [PMID: 33635415 DOI: 10.1007/s00403-021-02197-z] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/17/2020] [Revised: 01/13/2021] [Accepted: 02/06/2021] [Indexed: 11/27/2022]
Abstract
United States will soon be a nation of color; however, much of our knowledge of normal skin disease, and treatment thereof is based on white skin. We and others have attempted to elucidate any potential differences and advantages/disadvantages in skin function that have emerged during homo sapiens evolution post major migration from Eastern Africa. We investigated differences in one stratum corneum function by examining transepidermal water loss (TEWL) measurements in skin of color compared to Caucasian skin. TEWL, a measure of insensible water loss through stratum corneum, plays a major role in human survival. A comprehensive literature search was conducted to procure relevant papers that measured baseline TEWL in skin of color and Caucasian skin. The data show wide contradiction in results for all skin of color groups and white skin and, therefore, no conclusion can be made based on this question. We suggest this variation may be due to experimental confounding variables that impact TEWL quantification, such as anatomic site and sample size subject to further analysis and focus.
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Affiliation(s)
- Reva P Peer
- University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
| | - Anuk Burli
- University of Rochester School of Medicine and Dentistry, Rochester, NY, USA
| | - Howard I Maibach
- Department of Dermatology, University of California San Francisco, San Francisco, CA, USA
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5
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UVB Inhibits Proliferation, Cell Cycle and Induces Apoptosis via p53, E2F1 and Microtubules System in Cervical Cancer Cell Lines. Int J Mol Sci 2021; 22:ijms22105197. [PMID: 34068980 PMCID: PMC8157236 DOI: 10.3390/ijms22105197] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/28/2021] [Revised: 05/09/2021] [Accepted: 05/10/2021] [Indexed: 12/14/2022] Open
Abstract
Ultraviolet (UV) exposure has been linked to skin damage and carcinogenesis, but recently UVB has been proposed as a therapeutic approach for cancer. Herein, we investigated the cellular and molecular effects of UVB in immortal and tumorigenic HPV positive and negative cells. Cells were irradiated with 220.5 to 1102.5 J/m2 of UVB and cell proliferation was evaluated by crystal violet, while cell cycle arrest and apoptosis analysis were performed through flow cytometry. UVB effect on cells was recorded at 661.5 J/m2 and it was exacerbated at 1102.5 J/m2. All cell lines were affected by proliferation inhibition, cell cycle ablation and apoptosis induction, with different degrees depending on tumorigenesis level or HPV type. Analysis of the well-known UV-responsive p53, E2F1 and microtubules system proteins was performed in SiHa cells in response to UVB through Western-blotting assays. E2F1 and the Microtubule-associated protein 2 (MAP2) expression decrease correlated with cellular processes alteration while p53 and Microtubule-associated Protein 1S (MAP1S) expression switch was observed since 882 J/m2, suggesting they were required under more severe cellular damage. However, expression transition of α-Tubulin3C and β-Tubulin was abruptly noticed until 1102.5 J/m2 and particularly, γ-Tubulin protein expression remained without alteration. This study provides insights into the effect of UVB in cervical cancer cell lines.
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6
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Msimang PM. Medicine, anti-realism and ideology: Variation in medical genetics does not show that race is biologically real. ACTA ACUST UNITED AC 2020. [DOI: 10.1515/sats-2020-2003] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
Abstract
AbstractLee McIntyre’s Respecting Truth chronicles the contemporary challenges regarding the relationship amongst evidence, belief formation and ideology. The discussion in his book focusses on the ‘politicisation of knowledge’ and the purportedly growing public (and sometimes academic) tendency to choose to believe what is determined by prior ideological commitments rather than what is determined by evidence-based reasoning. In considering these issues, McIntyre posits that the claim “race is a myth” is founded on a political ideology rather than on support from scientific evidence. He contrasts this view with the argument that racially correlated biomedical outcomes for self-identified racial groups suggest that biological races are real. I explore how McIntyre’s framing of the claim “race is a myth” as fundamentally ideological results in him failing to engage with the arguments and evidence many constructionists and biological anti-realists put forward in support of their views. I also show how the biomedical evidence he thinks supports biological realism is unconvincing.
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Affiliation(s)
- Phila Mfundo Msimang
- Faculty of Arts and Social Sciences, Stellenbosch University, 80 Ryneveldt Street, Stellenbosch7602, South Africa
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7
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Vieth R. Weaker bones and white skin as adaptions to improve anthropological "fitness" for northern environments. Osteoporos Int 2020; 31:617-624. [PMID: 31696275 PMCID: PMC7075826 DOI: 10.1007/s00198-019-05167-4] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/13/2019] [Accepted: 09/11/2019] [Indexed: 01/12/2023]
Abstract
The vitamin D paradox relates to the lower risk of osteoporosis in people of sub-Saharan African ancestry (Blacks) compared with people of European ancestry (Whites). The paradox implies that for bone health, Blacks require less vitamin D and calcium than Whites do. Why should populations that migrated northward out of Africa have ended up needing more vitamin D than tropical Blacks? Human skin color became lighter away from the tropics to permit greater skin penetration of the UVB light that generates vitamin D. Lack of vitamin D impairs intestinal calcium absorption and limits the amount of calcium that can deposit into the protein matrix of bone, causing rickets or osteomalacia. These can cause cephalopelvic disproportion and death in childbirth. Whiter skin was more fit for reproduction in UV-light restricted environments, but natural selection was also driven by the phenotype of bone per se. Bone formation starts with the deposition of bone-matrix proteins. Mineralization of the matrix happens more slowly, and it stiffens bone. If vitamin D and/or calcium supplies are marginal, larger bones will not be as fully mineralized as smaller bones. For the same amount of mineral, unmineralized or partially mineralized bone is more easily deformed than fully mineralized bone. The evidence leads to the hypothesis that to minimize the soft bone that causes pelvic deformation, a decrease in amount of bone, along with more rapid mineralization of osteoid improved reproductive fitness in Whites. Adaptation of bone biology for reproductive fitness in response to the environmental stress of limited availability of vitamin D and calcium came at the cost of greater risk of osteoporosis later in life.
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Affiliation(s)
- R Vieth
- Department of Laboratory Medicine and Pathobiology, and Department of Nutritional Sciences, Faculty of Medicine, University of Toronto, Medical Sciences Building, 5th Floor, Room 5253A 1 King's College Circle, Toronto, Ontario, M5S 1A8, Canada.
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8
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Modulation of Diacylglycerol-Induced Melanogenesis in Human Melanoma and Primary Melanocytes: Role of Stress Chaperone Mortalin. EVIDENCE-BASED COMPLEMENTARY AND ALTERNATIVE MEDICINE 2019; 2019:9848969. [PMID: 31097976 PMCID: PMC6487102 DOI: 10.1155/2019/9848969] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 10/23/2018] [Revised: 12/21/2018] [Accepted: 02/17/2019] [Indexed: 12/03/2022]
Abstract
Skin color/pigmentation is regulated through melanogenesis process in specialized melanin-producing cells, melanocytes, involving multiple signaling pathways. It is highly influenced by intrinsic and extrinsic factors such as oxidative, ultraviolet radiations and other environmental stress conditions. Besides determining the color, it governs response and tolerance of skin to a variety of environmental stresses and pathological conditions including photodamage, hyperpigmentation, and skin cancer. Depigmenting reagents have been deemed useful not only for cosmetics but also for pigmentation-related pathologies. In the present study, we attempted modulation of 1-oleoyl-2-acetyl-glycerol- (OAG-) induced melanogenesis in human melanoma and primary melanocytes. In both cell types, OAG-induced melanogenesis was associated with increase in enhanced expression of melanin, tyrosinase, as well as stress chaperones (mortalin and HSP60) and Reactive Oxygen Species (ROS). Treatment with TXC (trans-4-(Aminomethyl) cyclohexanecarboxylic acid hexadecyl ester hydrochloride) and 5/40 natural compounds resulted in their reduction. The data proposed an important role of mortalin and oxidative stress in skin pigmentation and the use of TXC and natural extracts for modulation of pigmentation pathways in normal and pathological conditions.
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9
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Qasim A, Turcotte M, de Souza RJ, Samaan MC, Champredon D, Dushoff J, Speakman JR, Meyre D. On the origin of obesity: identifying the biological, environmental and cultural drivers of genetic risk among human populations. Obes Rev 2018; 19:121-149. [PMID: 29144594 DOI: 10.1111/obr.12625] [Citation(s) in RCA: 135] [Impact Index Per Article: 19.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/29/2017] [Revised: 08/28/2017] [Accepted: 09/08/2017] [Indexed: 12/12/2022]
Abstract
Genetic predisposition to obesity presents a paradox: how do genetic variants with a detrimental impact on human health persist through evolutionary time? Numerous hypotheses, such as the thrifty genotype hypothesis, attempt to explain this phenomenon yet fail to provide a justification for the modern obesity epidemic. In this critical review, we appraise existing theories explaining the evolutionary origins of obesity and explore novel biological and sociocultural agents of evolutionary change to help explain the modern-day distribution of obesity-predisposing variants. Genetic drift, acting as a form of 'blind justice,' may randomly affect allele frequencies across generations while gene pleiotropy and adaptations to diverse environments may explain the rise and subsequent selection of obesity risk alleles. As an adaptive response, epigenetic regulation of gene expression may impact the manifestation of genetic predisposition to obesity. Finally, exposure to malnutrition and disease epidemics in the wake of oppressive social systems, culturally mediated notions of attractiveness and desirability, and diverse mating systems may play a role in shaping the human genome. As an important first step towards the identification of important drivers of obesity gene evolution, this review may inform empirical research focused on testing evolutionary theories by way of population genetics and mathematical modelling.
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Affiliation(s)
- A Qasim
- Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada
| | - M Turcotte
- Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada
| | - R J de Souza
- Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada
| | - M C Samaan
- Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada.,Department of Pediatrics, McMaster University, Hamilton, ON, Canada.,Division of Pediatric Endocrinology, McMaster Children's Hospital, Hamilton, ON, Canada
| | - D Champredon
- Department of Biology, McMaster University, Hamilton, ON, Canada.,Agent-Based Modelling Laboratory, York University, Toronto, ON, Canada
| | - J Dushoff
- Department of Biology, McMaster University, Hamilton, ON, Canada
| | - J R Speakman
- Institute of Biological and Environmental Sciences, University of Aberdeen, Aberdeen, UK.,State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China
| | - D Meyre
- Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada.,Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada
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10
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Torres V, Herane MI, Costa A, Martin JP, Troielli P. Refining the ideas of "ethnic" skin. An Bras Dermatol 2017; 92:221-225. [PMID: 28538883 PMCID: PMC5429109 DOI: 10.1590/abd1806-4841.20174846] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/16/2015] [Accepted: 02/20/2016] [Indexed: 11/22/2022] Open
Abstract
Skin disease occur worldwide, affecting people of all nationalities and all skin types. These diseases may have a genetic component and may manifest differently in specific population groups; however, there has been little study on this aspect. If population-based differences exist, it is reasonable to assume that understanding these differences may optimize treatment. While there is a relative paucity of information about similarities and differences in skin diseases around the world, the knowledge-base is expanding. One challenge in understanding population-based variations is posed by terminology used in the literature: including ethnic skin, Hispanic skin, Asian skin, and skin of color. As will be discussed in this article, we recommend that the first three descriptors are no longer used in dermatology because they refer to nonspecific groups of people. In contrast, "skin of color" may be used - perhaps with further refinements in the future - as a term that relates to skin biology and provides relevant information to dermatologists.
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Affiliation(s)
- Vicente Torres
- Department of Dermatology, Juarez Hospital – Mexico City,
Mexico
| | | | - Adilson Costa
- Department of Dermatology, Emory University School of Medicine,
Atlanta, GA USA
| | - Jaime Piquero Martin
- Department of Dermatology, Universidad Central de Venezuela –
Caracas, Venezuela
| | - Patricia Troielli
- Department of Dermatology, University of Buenos Aires – Buenos
Aires, Argentina
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11
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Bandera Merchan B, Morcillo S, Martin-Nuñez G, Tinahones FJ, Macías-González M. The role of vitamin D and VDR in carcinogenesis: Through epidemiology and basic sciences. J Steroid Biochem Mol Biol 2017; 167:203-218. [PMID: 27913313 DOI: 10.1016/j.jsbmb.2016.11.020] [Citation(s) in RCA: 95] [Impact Index Per Article: 11.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/28/2016] [Revised: 11/24/2016] [Accepted: 11/27/2016] [Indexed: 12/31/2022]
Abstract
In the last two decades vitamin D (VD) research has demonstrated new extraskeletal actions of this pre-hormone, suggesting a protective role of this secosteroid in the onset, progression and prognosis of several chronic noncommunicable diseases, such as cardiovascular disease, diabetes mellitus or cancer. Regarding carcinogenesis, both preclinical and epidemiological evidence available show oncoprotective actions of VD and its receptor, the VDR. However, in late neoplastic stages the VD system (VDS) seems to be less functional, which appears to be due to an epigenetic silencing of the system. In preclinical experimental studies, VD presents oncoprotective actions through modulation of inflammation, cell proliferation, cell differentiation, angiogenesis, invasive and metastatic potential, apoptosis, miRNA expression regulation and modulation of the Hedgehog signalling pathway. Moreover, epidemiological evidence points towards an oncoprotective role of vitamin D and VDR in colorectal cancer. This association is more controversial with breast, ovarian and prostate cancers, although with a few adverse effects. Nonetheless, we should consider other factors to determine the benefit of increased serum concentration of VD. Much of the epidemiological evidence is still inconclusive, and we will have to wait for new, better-designed ongoing RCTs and their results to discern the real effect of vitamin D in cancer risk reduction and therapy. The objective of this literature review is to offer an up-to-date analysis of the role of the VD and VDR, in the onset, progression and prognosis of all types of cancer. We further discuss the available literature and suggest new hypotheses and future challenges in the field of VD research.
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Affiliation(s)
- Borja Bandera Merchan
- Unidad de Gestiòn Clìnica y Endocrinologìa y Nutriciòn, Instituto de Investigaciòn Biomèdica de Màlaga (IBIMA),Complejo Hospitalario de Màlaga (Virgen de la Victoria), Universidad de Màlaga, 29010 Malaga, Spain
| | - Sonsoles Morcillo
- CIBER Pathophysiology of Obesity and Nutrition (CB06/03),Instituto Salud Carlos III, 28029 Madrid, Spain
| | - Gracia Martin-Nuñez
- Unidad de Gestiòn Clìnica y Endocrinologìa y Nutriciòn, Instituto de Investigaciòn Biomèdica de Màlaga (IBIMA),Complejo Hospitalario de Màlaga (Virgen de la Victoria), Universidad de Màlaga, 29010 Malaga, Spain
| | - Francisco José Tinahones
- Unidad de Gestiòn Clìnica y Endocrinologìa y Nutriciòn, Instituto de Investigaciòn Biomèdica de Màlaga (IBIMA),Complejo Hospitalario de Màlaga (Virgen de la Victoria), Universidad de Màlaga, 29010 Malaga, Spain; CIBER Pathophysiology of Obesity and Nutrition (CB06/03),Instituto Salud Carlos III, 28029 Madrid, Spain
| | - Manuel Macías-González
- Unidad de Gestiòn Clìnica y Endocrinologìa y Nutriciòn, Instituto de Investigaciòn Biomèdica de Màlaga (IBIMA),Complejo Hospitalario de Màlaga (Virgen de la Victoria), Universidad de Màlaga, 29010 Malaga, Spain; CIBER Pathophysiology of Obesity and Nutrition (CB06/03),Instituto Salud Carlos III, 28029 Madrid, Spain.
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12
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Ultraviolet radiation and effects on humans: the paradigm of maternal vitamin D production during pregnancy. Eur J Clin Nutr 2016; 71:1268-1272. [PMID: 27677369 DOI: 10.1038/ejcn.2016.188] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/03/2016] [Accepted: 08/23/2016] [Indexed: 12/30/2022]
Abstract
Current evidence indicates that neonates born of mothers with vitamin D deficiency during pregnancy have greater risk for developing hypocalcemia, rickets and extra-skeletal disorders. Despite the classic knowledge that ultraviolet-B (UVB) exposure is the most efficient way for a future mother to obtain optimal vitamin D concentrations, no current consensus or clinical recommendations exist regarding the duration and timing of UVB exposure for pregnant women. This article offers a narrative review of available data regarding how UVB exposure affects maternal vitamin D production during pregnancy, along with a discourse on clinical implications of this public health issue. Future studies would benefit from adopting UVB exposure estimates to recommend appropriate UVB exposure to pregnant women. Doing so could provide a more holistic and practical approach in managing maternal hypovitaminosis D during pregnancy.
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13
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Polimanti R, Yang BZ, Zhao H, Gelernter J. Evidence of Polygenic Adaptation in the Systems Genetics of Anthropometric Traits. PLoS One 2016; 11:e0160654. [PMID: 27537407 PMCID: PMC4990182 DOI: 10.1371/journal.pone.0160654] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/28/2015] [Accepted: 07/25/2016] [Indexed: 12/26/2022] Open
Abstract
Many signals of natural selection have been identified in the human genome. However, except for some single-locus mechanisms, most molecular processes generating these adaptation signals are still unknown. We developed an approach that integrates datasets related to genome-wide association studies (GWAS) with information about systems biology and genetic signatures of natural selection to identify evidence of polygenic adaptation. Specifically, we focused on five anthropometric measurements: body mass index (BMI), height, waist-to-hip ratio adjusted for BMI (WHR), and waist circumference adjusted for BMI (WC), and sex differences for WHR and WC. We performed an enrichment analysis for signals of natural selection in protein interaction networks associated with anthropometric traits in European populations. The adaptation signals-enriched gene networks associated highlighted epistatic interactions in the context of polygenic selection for the investigated traits. These polygenic mechanisms indicated intriguing selective mechanisms related to the anthropometric traits: adult locomotory behavior for BMI, infection resistance for height, interplay between lipid transport and immune systems for WHR, and female-specific polygenic adaptation for WHR and WC. In conclusion, we observed evidence of polygenic adaptation in the context of systems genetics of anthropometric traits that indicates polygenic mechanisms related to the natural selection in European populations.
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Affiliation(s)
- Renato Polimanti
- Department of Psychiatry, Yale University School of Medicine, West Haven, Connecticut, United States of America
- VA CT Healthcare Center, West Haven, Connecticut, United States of America
| | - Bao Zhu Yang
- Department of Psychiatry, Yale University School of Medicine, West Haven, Connecticut, United States of America
- VA CT Healthcare Center, West Haven, Connecticut, United States of America
| | - Hongyu Zhao
- Department of Biostatistics, Yale University School of Public Health, New Haven, Connecticut, United States of America
- Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, United States of America
| | - Joel Gelernter
- Department of Psychiatry, Yale University School of Medicine, West Haven, Connecticut, United States of America
- VA CT Healthcare Center, West Haven, Connecticut, United States of America
- Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, United States of America
- Department of Neurobiology, Yale University School of Medicine, New Haven, Connecticut, United States of America
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14
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Wadhwa R, Priyandoko D, Gao R, Widodo N, Nigam N, Li L, Ahn HM, Yun CO, Ando N, Mahe C, Kaul SC. Stress chaperone mortalin regulates human melanogenesis. Cell Stress Chaperones 2016; 21:631-44. [PMID: 27056733 PMCID: PMC4907994 DOI: 10.1007/s12192-016-0688-2] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/22/2015] [Revised: 03/28/2016] [Accepted: 03/28/2016] [Indexed: 01/14/2023] Open
Abstract
In order to identify the cellular factors involved in human melanogenesis, we carried out shRNA-mediated loss-of-function screening in conjunction with induction of melanogenesis by 1-oleoyl-2-acetyl-glycerol (OAG) in human melanoma cells using biochemical and visual assays. Gene targets of the shRNAs (that caused loss of OAG-induced melanogenesis) and their pathways, as determined by bioinformatics, revealed involvement of proteins that regulate cell stress response, mitochondrial functions, proliferation, and apoptosis. We demonstrate, for the first time, that the mitochondrial stress chaperone mortalin is crucial for melanogenesis. Upregulation of mortalin was closely associated with melanogenesis in in vitro cell-based assays and clinical samples of keloids with hyperpigmentation. Furthermore, its knockdown resulted in compromised melanogenesis. The data proposed mortalin as an important protein that may be targeted to manipulate pigmentation for cosmetic and related disease therapeutics.
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Affiliation(s)
- Renu Wadhwa
- DAILAB, National Institute of Advanced Industrial Science and Technology (AIST), Central 5-41, 1-1-1 Higashi, Tsukuba, Ibaraki, 305-8565, Japan
| | - Didik Priyandoko
- DAILAB, National Institute of Advanced Industrial Science and Technology (AIST), Central 5-41, 1-1-1 Higashi, Tsukuba, Ibaraki, 305-8565, Japan
- Department of Biology, Universitas Pendidikan Indonesia, Bandung, Indonesia
| | - Ran Gao
- DAILAB, National Institute of Advanced Industrial Science and Technology (AIST), Central 5-41, 1-1-1 Higashi, Tsukuba, Ibaraki, 305-8565, Japan
| | - Nashi Widodo
- DAILAB, National Institute of Advanced Industrial Science and Technology (AIST), Central 5-41, 1-1-1 Higashi, Tsukuba, Ibaraki, 305-8565, Japan
- Department of Biology, Faculty of Mathematics and Natural Sciences, Brawijaya University, Malang, Indonesia
| | - Nupur Nigam
- DAILAB, National Institute of Advanced Industrial Science and Technology (AIST), Central 5-41, 1-1-1 Higashi, Tsukuba, Ibaraki, 305-8565, Japan
| | - Ling Li
- DAILAB, National Institute of Advanced Industrial Science and Technology (AIST), Central 5-41, 1-1-1 Higashi, Tsukuba, Ibaraki, 305-8565, Japan
| | - Hyo Min Ahn
- Department of Bioengineering, College of Engineering, Hanyang University, 222 Wangsimni-Ro, Seongdong-Gu, Seoul, 133-791, South Korea
| | - Chae-Ok Yun
- Department of Bioengineering, College of Engineering, Hanyang University, 222 Wangsimni-Ro, Seongdong-Gu, Seoul, 133-791, South Korea
| | - Nobuhiro Ando
- KK Chanel Research and Technology Development Laboratory, 1-1-5, Yamate, Funabashi-Chiba, 273-0045, Japan
| | - Christian Mahe
- KK Chanel Research and Technology Development Laboratory, 1-1-5, Yamate, Funabashi-Chiba, 273-0045, Japan
| | - Sunil C Kaul
- DAILAB, National Institute of Advanced Industrial Science and Technology (AIST), Central 5-41, 1-1-1 Higashi, Tsukuba, Ibaraki, 305-8565, Japan.
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15
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Abstract
There is at least a temporary loss of skin pigmentation with all but first-degree burns. Commonly, pigment changes persist for months, and sometimes, permanent changes in skin color add to the ultimate change in appearance that commonly affects burn patients. There are many different treatment modalities for the treatment of pigment changes, but most of them have little scientific basis and often lead to disappointing results. The purpose of this review is to discuss the molecular and cellular mechanisms of skin pigmentation, mechanisms of repigmentation after burns, treatment options for dealing with pigmentation changes, and advice for dealing with the sun after burn injury.
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16
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Rifkin RF, Dayet L, Queffelec A, Summers B, Lategan M, d’Errico F. Evaluating the Photoprotective Effects of Ochre on Human Skin by In Vivo SPF Assessment: Implications for Human Evolution, Adaptation and Dispersal. PLoS One 2015; 10:e0136090. [PMID: 26353012 PMCID: PMC4564224 DOI: 10.1371/journal.pone.0136090] [Citation(s) in RCA: 51] [Impact Index Per Article: 5.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/22/2015] [Accepted: 07/29/2015] [Indexed: 11/18/2022] Open
Abstract
Archaeological indicators of cognitively modern behaviour become increasingly prevalent during the African Middle Stone Age (MSA). Although the exploitation of ochre is viewed as a key feature of the emergence of modern human behaviour, the uses to which ochre and ochre-based mixtures were put remain ambiguous. Here we present the results of an experimental study exploring the efficacy of ochre as a topical photoprotective compound. This is achieved through the in vivo calculation of the sun protection factor (SPF) values of ochre samples obtained from Ovahimba women (Kunene Region, Northern Namibia) and the Palaeozoic Bokkeveld Group deposits of the Cape Supergroup (Western Cape Province, South Africa). We employ visible spectroscopy, energy-dispersive X-ray fluorescence (ED-XRF), X-ray diffraction (XRD) and granulometric analyses to characterise ochre samples. The capacity of ochre to inhibit the susceptibility of humans to the harmful effects of exposure to ultraviolet radiation (UVR) is confirmed and the mechanisms implicated in the efficacy of ochre as a sunscreen identified. It is posited that the habitual application of ochre may have represented a crucial innovation for MSA humans by limiting the adverse effects of ultraviolet exposure. This may have facilitated the colonisation of geographic regions largely unfavourable to the constitutive skin colour of newly arriving populations.
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Affiliation(s)
- Riaan F. Rifkin
- Institute for Archaeology, History, Culture and Religion, University of Bergen, Bergen, Norway
- Evolutionary Studies Institute, University of the Witwatersrand, Johannesburg, South Africa
| | - Laure Dayet
- Centre National de la Recherche Scientifique, Unité Mixte de Recherche, University of Bordeaux, Pessac, France
| | - Alain Queffelec
- Centre National de la Recherche Scientifique, Unité Mixte de Recherche, University of Bordeaux, Pessac, France
| | - Beverley Summers
- Photobiology Laboratory, Department of Pharmacy, University of Limpopo, Medunsa, South Africa
| | - Marlize Lategan
- Photobiology Laboratory, Department of Pharmacy, University of Limpopo, Medunsa, South Africa
| | - Francesco d’Errico
- Evolutionary Studies Institute, University of the Witwatersrand, Johannesburg, South Africa
- Centre National de la Recherche Scientifique, Unité Mixte de Recherche, University of Bordeaux, Pessac, France
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17
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Strange RC, Shipman KE, Ramachandran S. Metabolic syndrome: A review of the role of vitamin D in mediating susceptibility and outcome. World J Diabetes 2015; 6:896-911. [PMID: 26185598 PMCID: PMC4499524 DOI: 10.4239/wjd.v6.i7.896] [Citation(s) in RCA: 94] [Impact Index Per Article: 9.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/30/2014] [Revised: 01/01/2015] [Accepted: 03/05/2015] [Indexed: 02/05/2023] Open
Abstract
Despite the well-recognised role of vitamin D in a wide range of physiological processes, hypovitaminosis is common worldwide (prevalence 30%-50%) presumably arising from inadequate exposure to ultraviolet radiation and insufficient consumption. While generally not at the very low levels associated with rickets, hypovitaminosis D has been implicated in various very different, pathophysiological processes. These include putative effects on the pathogenesis of neoplastic change, inflammatory and demyelinating conditions, cardiovascular disease (CVD) and diabetes. This review focuses on the association between hypovitaminosis D and the metabolic syndrome as well as its component characteristics which are central obesity, glucose homeostasis, insulin resistance, hypertension and atherogenic dyslipidaemia. We also consider the effects of hypovitaminosis D on outcomes associated with the metabolic syndrome such as CVD, diabetes and non-alcoholic fatty liver disease. We structure this review into 3 distinct sections; the metabolic syndrome, vitamin D biochemistry and the putative association between hypovitaminosis D, the metabolic syndrome and cardiovascular risk.
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18
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López S, García Ó, Yurrebaso I, Flores C, Acosta-Herrera M, Chen H, Gardeazabal J, Careaga JM, Boyano MD, Sánchez A, Ratón-Nieto JA, Sevilla A, Smith-Zubiaga I, de Galdeano AG, Martinez-Cadenas C, Izagirre N, de la Rúa C, Alonso S. The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population. PLoS One 2014; 9:e104367. [PMID: 25093503 PMCID: PMC4122405 DOI: 10.1371/journal.pone.0104367] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/24/2014] [Accepted: 07/08/2014] [Indexed: 11/18/2022] Open
Abstract
We aimed to study the selective pressures interacting on SLC45A2 to investigate the interplay between selection and susceptibility to disease. Thus, we enrolled 500 volunteers from a geographically limited population (Basques from the North of Spain) and by resequencing the whole coding region and intron 5 of the 34 most and the 34 least pigmented individuals according to the reflectance distribution, we observed that the polymorphism Leu374Phe (L374F, rs16891982) was statistically associated with skin color variability within this sample. In particular, allele 374F was significantly more frequent among the individuals with lighter skin. Further genotyping an independent set of 558 individuals of a geographically wider population with known ancestry in the Spanish population also revealed that the frequency of L374F was significantly correlated with the incident UV radiation intensity. Selection tests suggest that allele 374F is being positively selected in South Europeans, thus indicating that depigmentation is an adaptive process. Interestingly, by genotyping 119 melanoma samples, we show that this variant is also associated with an increased susceptibility to melanoma in our populations. The ultimate driving force for this adaptation is unknown, but it is compatible with the vitamin D hypothesis. This shows that molecular evolution analysis can be used as a useful technology to predict phenotypic and biomedical consequences in humans.
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Affiliation(s)
- Saioa López
- Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country UPV/EHU, Leioa, Bizkaia, Spain
| | - Óscar García
- Ertzaintza Forensic Unit, Erandio, Bizkaia, Spain
| | | | - Carlos Flores
- CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain
- Research Unit, Hospital Universitario N.S. de Candelaria, Tenerife, Spain
- Applied Genomics Group (G2A), Genetics Laboratory, Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna, Tenerife, Spain
| | - Marialbert Acosta-Herrera
- CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain
- Research Unit, Hospital Universitario N.S. de Candelaria, Tenerife, Spain
- Research Unit, Universitary Hospital Dr. Negrin, Las Palmas de Gran Canaria, Spain
| | - Hua Chen
- Center for Computational Genetics and Genomics, Temple University, Philadelphia, Pennsylvania, United States of America
| | - Jesús Gardeazabal
- Dermatology Service, BioCruces Health Research Institute, Cruces University Hospital, Cruces-Barakaldo, Bizkaia, Spain
| | - Jesús María Careaga
- Dermatology Service, BioCruces Health Research Institute, Basurto University Hospital, Bilbao, Bizkaia, Spain
| | - María Dolores Boyano
- Department of Cell Biology and Histology, University of the Basque Country UPV/EHU, Leioa, Bizkaia, Spain
| | - Ana Sánchez
- Dermatology Service, BioCruces Health Research Institute, Basurto University Hospital, Bilbao, Bizkaia, Spain
| | - Juan Antonio Ratón-Nieto
- Dermatology Service, BioCruces Health Research Institute, Cruces University Hospital, Cruces-Barakaldo, Bizkaia, Spain
| | - Arrate Sevilla
- Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country UPV/EHU, Leioa, Bizkaia, Spain
| | - Isabel Smith-Zubiaga
- Department of Zoology and Animal Cell Biology, University of the Basque Country UPV/EHU, Leioa, Bizkaia, Spain
| | - Alicia García de Galdeano
- Department of Cell Biology and Histology, University of the Basque Country UPV/EHU, Leioa, Bizkaia, Spain
| | | | - Neskuts Izagirre
- Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country UPV/EHU, Leioa, Bizkaia, Spain
| | - Concepción de la Rúa
- Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country UPV/EHU, Leioa, Bizkaia, Spain
| | - Santos Alonso
- Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country UPV/EHU, Leioa, Bizkaia, Spain
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19
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de Cerqueira CCS, Hünemeier T, Gomez-Valdés J, Ramallo V, Volasko-Krause CD, Barbosa AAL, Vargas-Pinilla P, Dornelles RC, Longo D, Rothhammer F, Bedoya G, Canizales-Quinteros S, Acuña-Alonzo V, Gallo C, Poletti G, González-José R, Salzano FM, Callegari-Jacques SM, Schuler-Faccini L, Ruiz-Linares A, Cátira Bortolini M, for CANDELA (Consortium for the Analysis of the Diversity and Evolution of Latin America). Implications of the admixture process in skin color molecular assessment. PLoS One 2014; 9:e96886. [PMID: 24809478 PMCID: PMC4014568 DOI: 10.1371/journal.pone.0096886] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/16/2013] [Accepted: 04/12/2014] [Indexed: 12/19/2022] Open
Abstract
The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice.
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Affiliation(s)
| | - Tábita Hünemeier
- Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
| | - Jorge Gomez-Valdés
- Laboratorio de Antropología Física, Departamento de Anatomía, Facultad de Medicina, Universidad Nacional Autónoma de Mexico, Mexico City, Mexico
| | - Virgínia Ramallo
- Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
| | | | | | - Pedro Vargas-Pinilla
- Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
| | | | - Danaê Longo
- Instituto Federal de Educação, Ciência e Tecnologia Farroupilha, Alegrete, Brazil
| | - Francisco Rothhammer
- Instituto de Alta Investigación, Universidad de Tarapacá, Facultad de Medicina, Universidad de Chile and Centro de Investigaciones del Hombre en el Desierto, Arica, Chile
| | | | - Samuel Canizales-Quinteros
- Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, Universidad Nacional Autónoma de México, Mexico City, Mexico
- Instituto Nacional de Medicina Genómica, Mexico City, Mexico
| | - Victor Acuña-Alonzo
- Molecular Genetics Laboratory, Escuela Nacional de Antropología e Historia, Mexico City, Mexico
| | - Carla Gallo
- Laboratorio de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú
| | - Giovanni Poletti
- Laboratorio de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú
| | | | - Francisco Mauro Salzano
- Departamento de Estatística, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
| | - Sídia Maria Callegari-Jacques
- Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
- Departamento de Estatística, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
| | - Lavínia Schuler-Faccini
- Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
- INAGEMP – Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil
| | - Andrés Ruiz-Linares
- Department of Genetics, Evolution and Environment and UCL Genetics Institute, University College London, London, United Kingdom
| | - Maria Cátira Bortolini
- Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
- * E-mail:
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20
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Osborne DL, Hames R. A life history perspective on skin cancer and the evolution of skin pigmentation. AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 2013; 153:1-8. [DOI: 10.1002/ajpa.22408] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Affiliation(s)
- Daniel L. Osborne
- Department of Anthropology; University of Nebraska-Lincoln; Lincoln NE
| | - Raymond Hames
- Department of Anthropology; University of Nebraska-Lincoln; Lincoln NE
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21
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Abstract
Genome-wide association studies and comparative genomics have established major loci and specific polymorphisms affecting human skin, hair and eye color. Environmental changes have had an impact on selected pigmentation genes as populations have expanded into different regions of the globe.
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Affiliation(s)
- Richard A Sturm
- Institute for Molecular Bioscience, Melanogenix Group, The University of Queensland, Brisbane, Qld 4072, Australia.
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22
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Nishi Y, Hatano S, Aihara K, Kihara M. [Significance of copper analysis in clinical tests]. Mol Nutr Food Res 1990; 60:119-33. [PMID: 2622002 DOI: 10.1002/mnfr.201500243] [Citation(s) in RCA: 17] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/29/2015] [Revised: 07/28/2015] [Accepted: 07/30/2015] [Indexed: 12/14/2022]
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