Copyright
©The Author(s) 2015.
World J Gastroenterol. Oct 21, 2015; 21(39): 11088-11111
Published online Oct 21, 2015. doi: 10.3748/wjg.v21.i39.11088
Published online Oct 21, 2015. doi: 10.3748/wjg.v21.i39.11088
Gene | SNP | Association with |
PNPLA3, patatine-like phospholipase domain containing 3 | rs738409 | Steatosis |
NASH/necroinflammation | ||
Severity of fibrosis | ||
HCC development | ||
TM6SF2, transmembrane 6 superfamily member 2 | rs58542926 | Steatosis |
NASH/necroinflammation | ||
Severity of fibrosis | ||
Reduced cardiovascular risk | ||
NCAN, neurocan | rs2228603 | Steatosis |
PPP1R3B, protein phosphatase 1 regulatory subunit 3b | rs4240624 | Steatosis |
GCKR, glucokinase regulatory protein | rs780094 | Steatosis |
Severity of fibrosis | ||
LYPLAL1, lysophospholipase-like 1 | rs12137855 | Steatosis |
FDFT1, farnesyl diphosphate farnesyl transferase 1 | rs2645424 | NAFLD activity score |
PDGFA, platelet-derived growth factor alpha | rs343062 | Severity of fibrosis |
COL13A1, collagen type XIII alpha1 | rs1227756 | Lobular inflammation |
LTBP3, latent transforming growth factor-beta-protein 3 | rs6591182 | Lobular inflammation |
EFCAB4B, EF-hand calcium binding domain 4B | rs887304 | Lobular inflammation |
Gene | Functions of encoded protein | SNP |
ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase1 or PC-1 | Interaction with the insulin receptor with consequent reduction of insulin receptor activity | rs1044498 |
IRS-1, insulin receptor substrate 1 | Part of the machinery involved in insulin pathway as transductor of insulin receptor signaling | rs1801278 |
ADIPOQ, adiponectin | Relevant adipocytokine associated with insulin resistance, type 2 diabetes, and NAFLD pathogenesis | rs2241766 rs1501299 |
LEPR, leptin receptor | Receptor of leptin, a hormone synthesized by adipocytes that regulates food intake, insulin action, thermogenesis, and immune system | rs62589000 |
rs6700986 | ||
rs1137100 | ||
rs1137101 | ||
rs8179183 | ||
RETN, Resistin | Adipocytokine involved in lipid metabolism, hepatic insulin resistance, inflammatory cascade reactions, and fibrogenesis | rs3745367 |
PEMT, phosphatidylethanolamine N-methyltransferase | Enzyme involved in the de novo synthesis of phosphatidylcholine in the liver, a biochemical pathway essential for VLDL formation | rs7946 |
FATP5, Fatty Acid Transport Protein 5 | Transporter involved in the hepatic uptake of fatty acids | rs56225452 |
ADRB2 and ADRB3, β-adrenergic receptor 2 and 3 | β-adrenergic receptors, with several functions including regulation of basal metabolism and induction of lipolysis | rs4994 |
rs1042714 | ||
rs2053044 | ||
rs11168070 | ||
rs11959427 | ||
rs1042711 | ||
PPARα, peroxisome proliferative activated receptor α | Transcription factor whose activation improves steatosis, inflammation, and fibrosis in pre-clinical models of NAFLD | rs1800206 |
PPARGC1A, peroxisome proliferator-activated receptor γ coactivator 1-α | PGC-1α, involved in mitochondrial functions, oxidative stress, gluconeogenesis, and lipogenesis | rs8192678 |
rs2290602 | ||
PPARγ, peroxisome proliferative activated receptor γ | Transcription factor whose activation improves IR, restores adipose tissue insulin sensitivity, and decreases fatty free acids flux to the liver | rs1801282 |
APOE, apolipoprotein E | Mediator of remnant lipoprotein binding to LDL receptors to favor the clearance of chylomicrons and VLDL | N/A |
APOC3, apolipoprotein C-III | A constituent of plasma VLDL, chylomicrons, and HDL-C that inhibits lipoprotein lipase and triglycerides clearance | rs2854116 |
rs2854117 | ||
MTTP, microsomal triglyceride transfer protein | Transfer protein involved in apoB-lipoprotein assembly | rs1800591 |
rs1800804 | ||
rs1057613 rs3805335 | ||
LPIN1, lipin 1 | Phosphatase specifically involved in metabolic pathways between adipose tissue and liver | rs13412852 |
Gene | Functions of encoded protein | SNP |
TNF-α, tumor necrosis factor-α | Proinflammatory cytokine also involved in the regulation of insulin resistance, release of free fatty acids, and apoptosis in hepatocytes | rs1800629 |
rs361525 | ||
rs1799964 | ||
rs1800630 | ||
TRAIL, TNF-related apoptosis -inducing ligand | Protein functioning as a ligand that induces celluar apoptosis | rs6763816 rs4491934 |
IL-6, interleukin-6 | Proinflammatory cytokine produced by adipocytes, hepatocytes, and immune cells also involved in the modulation of insulin resistance | rs1800795 |
IL-1β, interleukin-1β | Member of IL-1 family cytokine, mainly produced by adipose tissue | rs16944 |
TLR4, toll-like receptor 4 | Receptor involved in the interaction with bacterial endotoxins capable to favor hepatic injury and a proinflammatory systemic status | rs4986790 |
IL28B, interleukin-28B | Cytokine belonging to the type III Interferon family | rs12979860 |
SOD2, superoxide dismutase 2 | Manganese-dependent mitochondrial enzyme involved in protection from cellular injury induced by superoxide radicals | rs4880 |
CYP2E1, cytochrome P450 2E1 | Part of the cytochrome P450 complex | rs2031920 |
UCP3, uncoupling protein 3 | Mitochondrial anion carrier involved in the metabolism of superoxide radicals and in the modulation of lipid homeostasis | rs1800849 rs11235972 |
UCP2, uncoupling protein 2 | Similar to uncoupling protein 3 | rs695366 |
MTHFR, methylenetetrahydrofolate reductase | Enzyme involved in the methylation of homocysteine to methionine | rs1801133 |
rs1801131 | ||
GCLC, Glutamate-cysteine ligase catalytic subunit | Limiting enzyme in the formation of glutathione, a relevant endogen antioxidant | rs17883901 |
HFE, hemochromatosis | Crucial protein for the regulation of iron homeostasis via the modulation of the expression of hepcidin | rs1800562 |
rs1799945 | ||
TMPRSS6, trans-membrane protease serine 6 | Matriptase-2, which cleaves the membrane-bound hemojuvelin, the co-receptor required for hepcidin expression in the liver | rs855791 |
KLF6, kruppel-like factor 6 | One of the Kruppel-like factors, a family of transcriptional factors that regulate cellular proliferation, differentiation, and apoptosis | rs3750861 |
TGF-β1, transforming growth factor β1 | In the liver, a promoter of hepatic fibrosis via the activation of hepatic stellate cells | rs1800471 |
ATII, angiotensin II | Part of the renin-angiotensin system, also advocated as an inducer of TGF-β1 production and accumulation of extracellular matrix in the liver | rs699 |
AGTR1, Angiotensin II Type 1 Receptor | Type 1 Receptor of Angiotensin II | rs3772622 rs3772633 rs2276736 rs3772630 rs3772627 |
- Citation: Macaluso FS, Maida M, Petta S. Genetic background in nonalcoholic fatty liver disease: A comprehensive review. World J Gastroenterol 2015; 21(39): 11088-11111
- URL: https://www.wjgnet.com/1007-9327/full/v21/i39/11088.htm
- DOI: https://dx.doi.org/10.3748/wjg.v21.i39.11088