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For: Valenti L, Maggioni P, Piperno A, Rametta R, Pelucchi S, Mariani R, Dongiovanni P, Fracanzani AL, Fargion S. Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis. World J Gastroenterol 2012; 18(22): 2813-2820 [PMID: 22719190 DOI: 10.3748/wjg.v18.i22.2813]
URL: https://www.wjgnet.com/1007-9327/full/v18/i22/2813.htm
Number Citing Articles
1
Stefano Romeo, Arun Sanyal, Luca Valenti. Leveraging Human Genetics to Identify Potential New Treatments for Fatty Liver Disease. Cell Metabolism 2020; 31(1) doi: 10.1016/j.cmet.2019.12.002
2
Paola Dongiovanni, Stefano Romeo, Luca Valenti. Genetic Factors in the Pathogenesis of Nonalcoholic Fatty Liver and Steatohepatitis. BioMed Research International 2015; 2015 doi: 10.1155/2015/460190
3
T. Herta, J. Fischer, T. Berg. Genetik metabolischer und viraler Lebererkrankungen. Der Gastroenterologe 2017; 12(1) doi: 10.1007/s11377-016-0128-y
4
Yelena Z. Ginzburg, Karin E. Finberg. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. 2021;  doi: 10.1016/B978-0-12-812535-9.00012-1
5
Jessica Seeßle, Hongying Gan-Schreier, Marietta Kirchner, Wolfgang Stremmel, Walee Chamulitrat, Uta Merle. Plasma Lipidome, PNPLA3 polymorphism and hepatic steatosis in hereditary hemochromatosis. BMC Gastroenterology 2020; 20(1) doi: 10.1186/s12876-020-01282-3
6
Liana Gheorghe, Speranta Iacob. Essentials of Non-Alcoholic Fatty Liver Disease. 2023;  doi: 10.1007/978-3-031-33548-8_12
7
Salvatore Petta, Luca Valenti, Elisabetta Bugianesi, Giovanni Targher, Stefano Bellentani, Ferruccio Bonino, Ele Ferrannini, Carmela Loguercio, Amedeo Lonardo, Fabio Marra, Marcello Mancini, Luca Miele, Valerio Nobili, Gianluca Svegliati Baroni, Federico Alessandro, Stefano Ballestri, Maurizia Rossana Brunetto, Barbara Coco, Antonio Grieco, Silvia Fargion, Loreta Kondili, Fabio Nascimbeni, Anna Prinster, Dante Romagnoli, Stefano Taddei, Ester Vanni, Stefano Vella. A “systems medicine” approach to the study of non-alcoholic fatty liver disease. Digestive and Liver Disease 2016; 48(3) doi: 10.1016/j.dld.2015.10.027
8
Peter J  Meffert. Effects of the PNPLA3–SNP rs738409 on Serum Transaminase levels are modified by body mass index and alcohol consumption. Biometrics & Biostatistics International Journal 2018; 7(4) doi: 10.15406/bbij.2018.07.00227
9
James C. Barton, Christine E. McLaren, Wen-pin Chen, Grant A. Ramm, Gregory J. Anderson, Lawrie W. Powell, V. Nathan Subramaniam, Paul C. Adams, Pradyumna D. Phatak, Lyle C. Gurrin, John D. Phillips, Charles J. Parker, Mary J. Emond, Gordon D. McLaren. Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes. Annals of Hepatology 2018; 17(5) doi: 10.5604/01.3001.0012.3169
10
Yan Zhao, Wenli Zhao, Jingchao Ma, Maeda Toshiyoshi, Ye Zhao. Patatin-like phospholipase domain-containing 3 gene (PNPLA3) polymorphic (rs738409) single nucleotide polymorphisms and susceptibility to nonalcoholic fatty liver disease: A meta-analysis of twenty studies. Medicine 2023; 102(10) doi: 10.1097/MD.0000000000033110
11
Maria Antonella Burza, Antonio Molinaro, Maria Luisa Attilia, Claudia Rotondo, Fabio Attilia, Mauro Ceccanti, Flaminia Ferri, Federica Maldarelli, Angela Maffongelli, Adriano De Santis, Adolfo Francesco Attili, Stefano Romeo, Stefano Ginanni Corradini. PNPLA3 I148M (rs738409) genetic variant and age at onset of at‐risk alcohol consumption are independent risk factors for alcoholic cirrhosis. Liver International 2014; 34(4) doi: 10.1111/liv.12310
12
Arthur Zimmermann. Tumors and Tumor-Like Lesions of the Hepatobiliary Tract. 2017;  doi: 10.1007/978-3-319-26956-6_165
13
Luca Valenti, Serena Pelusi, Luisa Ronzoni. Comprehensive Guide to Hepatitis Advances. 2023;  doi: 10.1016/B978-0-323-98368-6.00013-6
14
Nirupama Trehanpati, Dinesh Rawat, Hamed Hemati. Genome Analysis and Human Health. 2017;  doi: 10.1007/978-981-10-4298-0_3
15
Monika Rau, Katharina Baur, Andreas Geier. Host Genetic Variants in the Pathogenesis of Hepatitis C. Viruses 2012; 4(12) doi: 10.3390/v4123281
16
George G. Schweitzer, Brian N. Finck. Targeting Hepatic Glycerolipid Synthesis and Turnover to Treat Fatty Liver Disease. Advances in Hepatology 2014; 2014 doi: 10.1155/2014/498369
17
Sara Pelucchi, Stefania Galimberti, Federico Greni, Raffaela Rametta, Raffaella Mariani, Irene Pelloni, Domenico Girelli, Fabiana Busti, Giulia Ravasi, Maria Grazia Valsecchi, Luca Valenti, Alberto Piperno. Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE‐related hemochromatosis. Journal of Gastroenterology and Hepatology 2016; 31(7) doi: 10.1111/jgh.13315
18
Olivier Loréal, Thibault Cavey, François Robin, Moussa Kenawi, Pascal Guggenbuhl, Pierre Brissot. Iron as a Therapeutic Target in HFE-Related Hemochromatosis: Usual and Novel Aspects. Pharmaceuticals 2018; 11(4) doi: 10.3390/ph11040131
19
Darrell H. G. Crawford, Grant A. Ramm, Kim R. Bridle, Amanda J. Nicoll, Martin B. Delatycki, John K. Olynyk. Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver. Hepatology International 2023; 17(3) doi: 10.1007/s12072-023-10510-3
20
Cristina Maglio, Carlo Pirazzi, Arturo Pujia, Luca Valenti, Stefano Romeo. The PNPLA3 I148M variant and chronic liver disease: When a genetic mutation meets nutrients. Food Research International 2014; 63 doi: 10.1016/j.foodres.2014.01.055
21
Benedetta Donati, Benedetta Maria Motta, Piero Pingitore, Marica Meroni, Alessandro Pietrelli, Anna Alisi, Salvatore Petta, Chao Xing, Paola Dongiovanni, Benedetta del Menico, Raffaela Rametta, Rosellina Margherita Mancina, Sara Badiali, Anna Ludovica Fracanzani, Antonio Craxì, Silvia Fargion, Valerio Nobili, Stefano Romeo, Luca Valenti. The rs2294918 E434K variant modulates patatin‐like phospholipase domain‐containing 3 expression and liver damage. Hepatology 2016; 63(3) doi: 10.1002/hep.28370
22
Samantha G. Tilson, Carola M. Morell, An‐Sofie Lenaerts, Seung Bum Park, Zongyi Hu, Benjamin Jenkins, Albert Koulman, T. Jake Liang, Ludovic Vallier. Modeling PNPLA3‐Associated NAFLD Using Human‐Induced Pluripotent Stem Cells. Hepatology 2021; 74(6) doi: 10.1002/hep.32063
23
Kalliopi Azariadis, Nikolaos K. Gatselis, Aggeliki Lyberopoulou, Pinelopi Arvaniti, Kalliopi Zachou, Stella Gabeta, George N. Dalekos. PNPLA3 I148 M genetic variant in autoimmune hepatitis characterises advanced disease at diagnosis and reduced survival free of cirrhotic events and liver-related mortality. Journal of Translational Autoimmunity 2024; 9 doi: 10.1016/j.jtauto.2024.100243
24
Amit G Singal, Hema Manjunath, Adam C Yopp, Muhammad S Beg, Jorge A Marrero, Purva Gopal, Akbar K Waljee. The Effect of PNPLA3 on Fibrosis Progression and Development of Hepatocellular Carcinoma: A Meta-analysis. American Journal of Gastroenterology 2014; 109(3) doi: 10.1038/ajg.2013.476
25
Silvia Sookoian, Carlos J. Pirola, Luca Valenti, Nicholas O. Davidson. Genetic Pathways in Nonalcoholic Fatty Liver Disease: Insights From Systems Biology. Hepatology 2020; 72(1) doi: 10.1002/hep.31229
26
Tyler J Severson, Siddesh Besur, Herbert L Bonkovsky. Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review. World Journal of Gastroenterology 2016; 22(29): 6742-6756 doi: 10.3748/wjg.v22.i29.6742
27
Eric Trépo, Luca Valenti. Update on NAFLD genetics: From new variants to the clinic. Journal of Hepatology 2020; 72(6) doi: 10.1016/j.jhep.2020.02.020
28
Madhuri Haque, Till Robin Lesker, Ulrike Rolle-Kampczyk, Anneleen Segers, Willem M De Vos, Antonio Molinaro, Thriveni Basavanapura, Yazhou Chen, Maria Backhaus, Mohamed Ramadan Mohamed, Lu Jiang, Qusay Salih, Lena Candels, Marcus Henricsson, Agata Bielecka, Sonja Lang, Frank Tacke, Jan G Hengstler, Carolin Victoria Schneider, Münevver Demir, Till Strowig, Martin von Bergen, Kai Markus Schneider, Christian Trautwein. Microbiota-host genetic interactions modulate MASLD risk in PNPLA3I148M carriers via ceramides and are reversible by targeted microbial interventions. Gut 2026;  doi: 10.1136/gutjnl-2026-338178
29
Albert Friedrich Stättermayer, Stefan Traussnigg, Hans-Peter Dienes, Elmar Aigner, Rudolf Stauber, Karoline Lackner, Harald Hofer, Judith Stift, Friedrich Wrba, Andreas Stadlmayr, Christian Datz, Michael Strasser, Andreas Maieron, Michael Trauner, Peter Ferenci. Hepatic steatosis in Wilson disease – Role of copper and PNPLA3 mutations. Journal of Hepatology 2015; 63(1) doi: 10.1016/j.jhep.2015.01.034
30
Luca Valenti, Paola Dongiovanni, Stefano Ginanni Corradini, Maria Antonella Burza, Stefano Romeo. PNPLA3 I148M variant and hepatocellular carcinoma: A common genetic variant for a rare disease. Digestive and Liver Disease 2013; 45(8) doi: 10.1016/j.dld.2012.12.006
31
Antonello Pietrangelo. Zakim and Boyer's Hepatology. 2018;  doi: 10.1016/B978-0-323-37591-7.00060-4
32
Paola Dongiovanni, Luca Valenti. Genetics of nonalcoholic fatty liver disease. Metabolism 2016; 65(8) doi: 10.1016/j.metabol.2015.08.018
33
Jian-Hua Shen, Yi-Ling Li, Dan Li, Ning-Ning Wang, Lei Jing, Yu-Hong Huang. The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis. Journal of Lipid Research 2015; 56(1) doi: 10.1194/jlr.M048777
34
Elena Corradini, Elena Buzzetti, Antonello Pietrangelo. Genetic iron overload disorders. Molecular Aspects of Medicine 2020; 75 doi: 10.1016/j.mam.2020.100896
35
Pierre Brissot, Thibault Cavey, Martine Ropert, François Gaboriau, Olivier Loréal. Hemochromatosis: a model of metal-related human toxicosis. Environmental Science and Pollution Research 2018; 25(3) doi: 10.1007/s11356-016-7576-2
36
Paola Dongiovanni, Stefano Romeo, Luca Valenti. Hepatocellular carcinoma in nonalcoholic fatty liver: Role of environmental and genetic factors. World Journal of Gastroenterology 2014; 20(36): 12945-12955 doi: 10.3748/wjg.v20.i36.12945
37
Stephan Buch, Aneesh Sharma, Eleanor Ryan, Christian Datz, William J. H. Griffiths, Michael Way, Thomas W. M. Buckley, John D. Ryan, Stephen Stewart, Callum Wright, Paola Dongiovanni, Anna Fracanzani, Jochen Zwerina, Uta Merle, Karl Heinz Weiss, Elmar Aigner, Elisabeth Krones, Christian Dejaco, Janett Fischer, Thomas Berg, Luca Valenti, Heinz Zoller, Andrew McQuillin, Jochen Hampe, Felix Stickel, Marsha Y. Morgan. Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis. Alimentary Pharmacology & Therapeutics 2021; 53(7) doi: 10.1111/apt.16252
38
Antonello Pietrangelo. Iron and the liver. Liver International 2016; 36(S1) doi: 10.1111/liv.13020
39
Yusuf Moolla, Veron Ramsuran. An Insight into the Genetic Predisposition of Metabolic Dysfunction‐Associated Steatotic Liver Disease in Africa. Liver International Communications 2024; 5(4) doi: 10.1002/lci2.70006
40
Eric Trépo, Stefano Romeo, Jessica Zucman-Rossi, Pierre Nahon. PNPLA3 gene in liver diseases. Journal of Hepatology 2016; 65(2) doi: 10.1016/j.jhep.2016.03.011
41
O. V. Smirnova, O. L. Moskalenko, E. V. Kasparov, I. E. Kasparova. Genetic predictors and pathophysiological features of non-alcoholic fat liver disease. Meditsinskiy sovet = Medical Council 2021; (15) doi: 10.21518/2079-701X-2021-15-78-87
42
Pavel Trunečka, Irena Míková, Dana Dlouhá, Jaroslav A. Hubáček, Eva Honsová, Libor Kolesár, Věra Lánská, Soňa Fraňková, Jan Šperl, Milan Jirsa, Rudolf Poledne. Donor PNPLA3 rs738409 genotype is a risk factor for graft steatosis. A post-transplant biopsy-based study. Digestive and Liver Disease 2018; 50(5) doi: 10.1016/j.dld.2017.12.030
43
Antonello Pietrangelo. Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin. Gastroenterology 2015; 149(5) doi: 10.1053/j.gastro.2015.06.045
44
Luca Valenti, Anna Ludovica Fracanzani, Raffaela Rametta, Mirella Fraquelli, Giulia Soverini, Serena Pelusi, Paola Dongiovanni, Dario Conte, Silvia Fargion. Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis. Journal of Hepatology 2012; 57(6) doi: 10.1016/j.jhep.2012.07.041
45
Arthur Zimmermann. Tumors and Tumor-Like Lesions of the Hepatobiliary Tract. 2016;  doi: 10.1007/978-3-319-26587-2_165-1
46
John K. Olynyk, Richard Grainger, Helen Currie, Louise E. Ramm, Grant A. Ramm. The ancestral haplotype markers HLA -A3 and B7 do not influence the likelihood of advanced hepatic fibrosis or cirrhosis in HFE hemochromatosis. Scientific Reports 2023; 13(1) doi: 10.1038/s41598-023-35028-4