eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| non-alcoholic fatty liver disease | ||||
| Disease ID | 881 |
|---|---|
| Disease | non-alcoholic fatty liver disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:22) C0028754 | obesity | 21 C2711227 | steatohepatitis | 21 C0239946 | liver fibrosis | 20 C0948265 | metabolic syndrome | 18 C2711227 | hepatic steatosis | 12 C0011860 | type 2 diabetes | 11 C0239946 | hepatic fibrosis | 10 C0019204 | hepatocellular carcinoma | 6 C0004153 | atherosclerosis | 5 C0427008 | stiffness | 5 C0577631 | carotid atherosclerosis | 4 C0007222 | cardiovascular disease | 3 C0023895 | liver disease | 3 C0242339 | dyslipidemia | 3 C0159069 | impaired glucose tolerance | 3 C0520679 | obstructive sleep apnea | 2 C0023890 | cirrhosis | 2 C0019158 | hepatitis | 2 C0007570 | celiac disease | 1 C0007570 | coeliac disease | 1 C2711227 | liver steatosis | 1 C0085605 | liver failure | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:167) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10954668 | 20708005 | 781 | CACNA2D1 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | CACNA2D1 | 7 | 82218335 | G | A |
| rs11083271 | 20708005 | 1000 | CDH2 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | NA | 18 | 28346095 | C | T |
| rs1131580 | 24065684 | 8743 | TNFSF10 | umls:C0400966 | BeFree | We recently discovered the association of nonalcoholic fatty liver disease, a risk factor for T2DM, with a single nucleotide polymorphism (SNP) in the TRAIL (TNFSF10) gene at site 1595C/T (rs1131580), indicating the possible association of T2DM with this TRAIL polymorphism. | 0.000542884 | 2014 | TNFSF10 | 3 | 172505830 | A | G |
| rs1137100 | 23278404 | 127069 | OR2T10 | umls:C0400966 | BeFree | We observed a significant association between the LEPR rs1137100 and rs1137101 with susceptibility to NAFLD (odds ratio [OR] 1.64, 95% confidence interval [CI] 1.18-2.28, P = 0.003; and OR 1.61, 95% CI 1.11-2.34, P = 0.013, respectively) and to non-alcoholic steatohepatitis (OR 1.49, 95% CI 1.05-2.12, P = 0.026; and OR 1.57, 95% CI 1.05-2.35, P = 0.029, respectively). | 0.000271442 | 2013 | LEPR | 1 | 65570758 | A | G |
| rs1137101 | 23278404 | 127069 | OR2T10 | umls:C0400966 | BeFree | We observed a significant association between the LEPR rs1137100 and rs1137101 with susceptibility to NAFLD (odds ratio [OR] 1.64, 95% confidence interval [CI] 1.18-2.28, P = 0.003; and OR 1.61, 95% CI 1.11-2.34, P = 0.013, respectively) and to non-alcoholic steatohepatitis (OR 1.49, 95% CI 1.05-2.12, P = 0.026; and OR 1.57, 95% CI 1.05-2.35, P = 0.029, respectively). | 0.000271442 | 2013 | LEPR | 1 | 65592830 | A | G |
| rs11669592 | 20708005 | 60680 | CELF5 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | NA | 19 | 3318512 | A | G |
| rs12137855 | 24477042 | 79660 | PPP1R3B | umls:C0400966 | BeFree | By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD. | 0.000814326 | 2014 | LOC101929713 | 1 | 219275036 | C | T |
| rs12137855 | 24477042 | 127018 | LYPLAL1 | umls:C0400966 | BeFree | By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD. | 0.000542884 | 2014 | LOC101929713 | 1 | 219275036 | C | T |
| rs121908277 | 21057163 | 7124 | TNF | umls:C0400966 | BeFree | G308A polymorphism of TNF-alpha gene is associated with insulin resistance and histological changes in non alcoholic fatty liver disease patients. | 0.003528744 | 2010 | INS;INS-IGF2 | 11 | 2159877 | T | C |
| rs1227756 | 20708005 | 1305 | COL13A1 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | COL13A1 | 10 | 69828748 | G | A |
| rs12344488 | 20708005 | 26578 | OSTF1 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | NA | 9 | 75811009 | G | A |
| rs12970134 | 24458218 | 4160 | MC4R | umls:C0400966 | BeFree | The FTO rs9939609 A-allele increased risk of NAFLD and MC4R rs12970134 was associated with ALT level through an effect on BMI. | 0.000271442 | 2015 | NA | 18 | 60217517 | G | A |
| rs12970134 | 24458218 | 79068 | FTO | umls:C0400966 | BeFree | The FTO rs9939609 A-allele increased risk of NAFLD and MC4R rs12970134 was associated with ALT level through an effect on BMI. | 0.000271442 | 2015 | NA | 18 | 60217517 | G | A |
| rs12970134 | 24458218 | 51141 | INSIG2 | umls:C0400966 | BeFree | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4783819 in fat mass and obesity-associated gene (FTO); rs12970134 and rs17782313 in melanocortin-4 receptor gene (MC4R); and rs7566605, rs13428113, and rs9308762 in insulin-induced gene 2 [INSIG2]) were associated with NAFLD. | 0.000271442 | 2015 | NA | 18 | 60217517 | G | A |
| rs1305088 | 20708005 | 283537 | SLC46A3 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | SLC46A3;RNU6-53P | 13 | 28704313 | T | C |
| rs13412852 | 22157924 | 23175 | LPIN1 | umls:C0400966 | BeFree | LPIN1 rs13412852 polymorphism in pediatric nonalcoholic fatty liver disease. | 0.000271442 | 2012 | LPIN1 | 2 | 11774815 | C | T |
| rs13428113 | 24458218 | 51141 | INSIG2 | umls:C0400966 | BeFree | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4783819 in fat mass and obesity-associated gene (FTO); rs12970134 and rs17782313 in melanocortin-4 receptor gene (MC4R); and rs7566605, rs13428113, and rs9308762 in insulin-induced gene 2 [INSIG2]) were associated with NAFLD. | 0.000271442 | 2015 | INSIG2;LOC105373988 | 2 | 118089309 | T | C |
| rs1414896 | 20708005 | 148534 | TMEM56 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | TMEM56-RWDD3;LOC101928118 | 1 | 95226754 | G | A |
| rs1697137 | 20009918 | 375449 | MAST4 | umls:C0400966 | GAD | [These results suggest that in the context of HIV infection and HAART, a functional SNP in a biologically plausible candidate gene, RYR3, is associated with increased common carotid IMT, which is a surrogate for atherosclerosis.] | 0.002367032 | 2010 | MAST4 | 5 | 67156347 | G | A |
| rs17151904 | 20009918 | 64111 | NPVF | umls:C0400966 | GAD | [These results suggest that in the context of HIV infection and HAART, a functional SNP in a biologically plausible candidate gene, RYR3, is associated with increased common carotid IMT, which is a surrogate for atherosclerosis.] | 0.002367032 | 2010 | NA | 7 | 25568789 | G | A |
| rs17782313 | 24458218 | 51141 | INSIG2 | umls:C0400966 | BeFree | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4783819 in fat mass and obesity-associated gene (FTO); rs12970134 and rs17782313 in melanocortin-4 receptor gene (MC4R); and rs7566605, rs13428113, and rs9308762 in insulin-induced gene 2 [INSIG2]) were associated with NAFLD. | 0.000271442 | 2015 | NA | 18 | 60183864 | T | C |
| rs1799945 | 20739079 | 3077 | HFE | umls:C0400966 | BeFree | The aim of this study was to assess whether a panel of genetic variants previously reported to influence iron metabolism, including the C282Y/H63D HFE, the PiZ/PiS alpha1-antitrypsin, the IVS1-24 ferroportin polymorphisms, and the beta-thalassemia trait, may be able to predict the presence of parenchymal siderosis and of progressive fibrosis in NAFLD. | 0.003257302 | 2010 | HFE | 6 | 26090951 | C | G |
| rs1800206 | 23891824 | 5468 | PPARG | umls:C0400966 | BeFree | The objective of this study was to analyze the polymorphisms Leu162Val of PPARα and Pro12Ala of PPARγ as genetic risk factors for the development and progression of NAFLD. | 0.002985861 | 2013 | PPARA | 22 | 46218377 | C | G |
| rs1800206 | 23891824 | 5465 | PPARA | umls:C0400966 | BeFree | The objective of this study was to analyze the polymorphisms Leu162Val of PPARα and Pro12Ala of PPARγ as genetic risk factors for the development and progression of NAFLD. | 0.12434307 | 2013 | PPARA | 22 | 46218377 | C | G |
| rs1800234 | 18853997 | 5465 | PPARA | umls:C0400966 | BeFree | A Val227Ala substitution in the peroxisome proliferator activated receptor alpha (PPAR alpha) gene associated with non-alcoholic fatty liver disease and decreased waist circumference and waist-to-hip ratio. | 0.12434307 | 2008 | PPARA | 22 | 46219983 | T | A,C |
| rs1800562 | 12779071 | 3077 | HFE | umls:C0400966 | BeFree | The mild iron overload associated with heterozygosity for C282Y HFE mutation confers susceptibility to nonalcoholic fatty liver disease, causing relative insulin deficiency. | 0.003257302 | 2003 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 22611049 | 57817 | HAMP | umls:C0400966 | BeFree | Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations. | 0.000542884 | 2012 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 20739079 | 3077 | HFE | umls:C0400966 | BeFree | The aim of this study was to assess whether a panel of genetic variants previously reported to influence iron metabolism, including the C282Y/H63D HFE, the PiZ/PiS alpha1-antitrypsin, the IVS1-24 ferroportin polymorphisms, and the beta-thalassemia trait, may be able to predict the presence of parenchymal siderosis and of progressive fibrosis in NAFLD. | 0.003257302 | 2010 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 22611049 | 3077 | HFE | umls:C0400966 | BeFree | Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations. | 0.003257302 | 2012 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 23990522 | 3077 | HFE | umls:C0400966 | BeFree | RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes. | 0.003257302 | 2015 | HFE | 6 | 26092913 | G | A |
| rs1800591 | 25501226 | 4490 | MT1B | umls:C0400966 | BeFree | In this meta-analysis, we evaluated the relationships between a common polymorphism (-493G>T, rs1800591 G>T) in the MTP gene and NAFLD risk. | 0.000814326 | 2015 | MTTP | 4 | 99574331 | G | T |
| rs1800591 | 24588800 | 4490 | MT1B | umls:C0400966 | BeFree | Many existing studies have demonstrated that a common polymorphism (-493G>T, rs1800591 G>T) in the MTP gene may be implicated in the development and progression of NAFLD, but individually published results are inconclusive. | 0.000814326 | 2014 | MTTP | 4 | 99574331 | G | T |
| rs1801282 | 21939732 | 5468 | PPARG | umls:C0400966 | BeFree | PPARG gene Pro12Ala variant contributes to the development of non-alcoholic fatty liver in middle-aged and older Chinese population. | 0.002985861 | 2012 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 23891820 | 5468 | PPARG | umls:C0400966 | BeFree | Association between the Pro12Ala polymorphism of PPAR-γ gene and the non-alcoholic fatty liver disease: a meta-analysis. | 0.002985861 | 2013 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 23891824 | 5465 | PPARA | umls:C0400966 | BeFree | The objective of this study was to analyze the polymorphisms Leu162Val of PPARα and Pro12Ala of PPARγ as genetic risk factors for the development and progression of NAFLD. | 0.12434307 | 2013 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 23891824 | 5468 | PPARG | umls:C0400966 | BeFree | The objective of this study was to analyze the polymorphisms Leu162Val of PPARα and Pro12Ala of PPARγ as genetic risk factors for the development and progression of NAFLD. | 0.002985861 | 2013 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 24697566 | 5468 | PPARG | umls:C0400966 | BeFree | Meta-analysis of associations between the peroxisome proliferator-activated receptor-γ Pro12Ala polymorphism and susceptibility to nonalcoholic fatty liver disease, rheumatoid arthritis, and psoriatic arthritis. | 0.002985861 | 2014 | PPARG | 3 | 12351626 | C | G |
| rs1805094 | 22530350 | 3953 | LEPR | umls:C0400966 | BeFree | Lys656Asn polymorphism of LEPR gene is associated with obesity parameters, insulin resistance and glucose levels in patients with NAFLD. | 0.001085767 | 2012 | LEPR | 1 | 65610269 | G | C |
| rs1805192 | 21939732 | 5468 | PPARG | umls:C0400966 | BeFree | PPARG gene Pro12Ala variant contributes to the development of non-alcoholic fatty liver in middle-aged and older Chinese population. | 0.002985861 | 2012 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 23891820 | 5468 | PPARG | umls:C0400966 | BeFree | Association between the Pro12Ala polymorphism of PPAR-γ gene and the non-alcoholic fatty liver disease: a meta-analysis. | 0.002985861 | 2013 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 24697566 | 5468 | PPARG | umls:C0400966 | BeFree | Meta-analysis of associations between the peroxisome proliferator-activated receptor-γ Pro12Ala polymorphism and susceptibility to nonalcoholic fatty liver disease, rheumatoid arthritis, and psoriatic arthritis. | 0.002985861 | 2014 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 23891824 | 5465 | PPARA | umls:C0400966 | BeFree | The objective of this study was to analyze the polymorphisms Leu162Val of PPARα and Pro12Ala of PPARγ as genetic risk factors for the development and progression of NAFLD. | 0.12434307 | 2013 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 23891824 | 5468 | PPARG | umls:C0400966 | BeFree | The objective of this study was to analyze the polymorphisms Leu162Val of PPARα and Pro12Ala of PPARγ as genetic risk factors for the development and progression of NAFLD. | 0.002985861 | 2013 | PPARG | 3 | 12379739 | C | G |
| rs2014355 | 20037589 | 35 | ACADS | umls:C0400966 | GAD | [A genome-wide perspective of genetic variation in human metabolism.] | 0.002367032 | 2010 | ACADS | 12 | 120737721 | T | C |
| rs2073080 | 22719876 | 29780 | PARVB | umls:C0400966 | GWASCAT | Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese. | 0.120542884 | 2012 | PARVB | 22 | 43998522 | C | T |
| rs2143571 | 22719876 | 25813 | SAMM50 | umls:C0400966 | GWASCAT | Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese. | 0.120542884 | 2012 | SAMM50 | 22 | 43995806 | G | A |
| rs2216228 | 20708005 | 6489 | ST8SIA1 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | ST8SIA1 | 12 | 22212901 | T | C |
| rs2228314 | 24992162 | 6721 | SREBF2 | umls:C0400966 | BeFree | Relationship of SREBP-2 rs2228314 G>C polymorphism with nonalcoholic fatty liver disease in a Han Chinese population. | 0.001900093 | 2015 | SREBF2 | 22 | 41880738 | G | C |
| rs2228314 | 22182810 | 6721 | SREBF2 | umls:C0400966 | BeFree | SREBP-2 1784 G/C genotype is associated with non-alcoholic fatty liver disease in north Indians. | 0.001900093 | 2011 | SREBF2 | 22 | 41880738 | G | C |
| rs2228603 | 24477042 | 79660 | PPP1R3B | umls:C0400966 | BeFree | By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD. | 0.000814326 | 2014 | NCAN | 19 | 19219115 | C | A,T |
| rs2228603 | 24477042 | 127018 | LYPLAL1 | umls:C0400966 | BeFree | By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD. | 0.000542884 | 2014 | NCAN | 19 | 19219115 | C | A,T |
| rs2241766 | 19246975 | 9370 | ADIPOQ | umls:C0400966 | BeFree | The T45G and G276T of the adiponectin gene may not be the important determinants of NAFLD in Chinese people, but some of them still influence serum ALT, BMI, IR, lipid, glucose metabolism and plasma adiponectin concentration. | 0.201085767 | 2008 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853103 | T | G |
| rs2286963 | 20037589 | 33 | ACADL | umls:C0400966 | GAD | [A genome-wide perspective of genetic variation in human metabolism.] | 0.002367032 | 2010 | ACADL | 2 | 210195326 | T | G |
| rs2454206 | 26356709 | 10891 | PPARGC1A | umls:C0400966 | BeFree | The p.Ile1762Val substitution (TET2-rs2454206) was associated with liver PPARGC1A-methylation and transcriptional levels, and Type 2 diabetes.Our results suggest that 5-hmC might be involved in the pathogenesis of NAFLD by regulating liver mitochondrial biogenesis and PPARGC1A expression. | 0.081900093 | 2015 | TET2;TET2-AS1 | 4 | 105275794 | A | G,T |
| rs2454206 | 26356709 | 54790 | TET2 | umls:C0400966 | BeFree | The p.Ile1762Val substitution (TET2-rs2454206) was associated with liver PPARGC1A-methylation and transcriptional levels, and Type 2 diabetes.Our results suggest that 5-hmC might be involved in the pathogenesis of NAFLD by regulating liver mitochondrial biogenesis and PPARGC1A expression. | 0.000271442 | 2015 | TET2;TET2-AS1 | 4 | 105275794 | A | G,T |
| rs2499604 | 20708005 | 57829 | ZP4 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | NA | 1 | 237940201 | C | T |
| rs2645424 | 20708005 | 2222 | FDFT1 | umls:C0400966 | GAD | [In multivariate models adjusted for age, body mass index, diabetes, waist/hip ratios, and levels of glycated hemoglobin, the NAFLD activity score was associated with the SNP rs2645424 on chromosome 8 in farnesyl diphosphate farnesyl transferase 1 (FDFT1) (P = 6.8 A 10(-7)).] | 0.002909916 | 2010 | FDFT1 | 8 | 11826954 | A | G,C |
| rs2645424 | 23870067 | 2222 | FDFT1 | umls:C0400966 | BeFree | Recently, a polymorphism of single nucleotide polymorphism SNP rs2645424 of farnesyl diphosphate farnesyl transferase 1 (FDFT1) was identified in NAFLD/NASH as a possible causal link to steatosis and fibrosis progression. | 0.002909916 | 2013 | FDFT1 | 8 | 11826954 | A | G,C |
| rs2645424 | 20708005 | 2222 | FDFT1 | umls:C0400966 | BeFree | In multivariate models adjusted for age, body mass index, diabetes, waist/hip ratios, and levels of glycated hemoglobin, the NAFLD activity score was associated with the SNP rs2645424 on chromosome 8 in farnesyl diphosphate farnesyl transferase 1 (FDFT1) (P = 6.8 × 10(-7)). | 0.002909916 | 2010 | FDFT1 | 8 | 11826954 | A | G,C |
| rs2710833 | 20708005 | 91351 | DDX60L | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | NA | 4 | 168488807 | T | C |
| rs2800 | 20708005 | 285195 | SLC9A9 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | SLC9A9 | 3 | 143705980 | C | T |
| rs2854116 | 24707151 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Genotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) in 390 patients with NAFLD and 409 control subjects were determined by sequencing and polymerase chain reaction analysis. | 0.264896707 | 2014 | APOC3 | 11 | 116829453 | C | T |
| rs2854116 | 21663607 | 345 | APOC3 | umls:C0400966 | BeFree | Apolipoprotein C3 (APOC3) is a component of triglyceride-rich lipoproteins, and APOC3 rs2854116 and rs2854117 polymorphisms have been associated with non-alcoholic fatty liver disease, hypertriglyceridaemia, and insulin-resistance. | 0.002442977 | 2011 | APOC3 | 11 | 116829453 | C | T |
| rs2854117 | 24707151 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Genotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) in 390 patients with NAFLD and 409 control subjects were determined by sequencing and polymerase chain reaction analysis. | 0.264896707 | 2014 | APOC3 | 11 | 116829426 | T | C |
| rs2854117 | 21663607 | 345 | APOC3 | umls:C0400966 | BeFree | Apolipoprotein C3 (APOC3) is a component of triglyceride-rich lipoproteins, and APOC3 rs2854116 and rs2854117 polymorphisms have been associated with non-alcoholic fatty liver disease, hypertriglyceridaemia, and insulin-resistance. | 0.002442977 | 2011 | APOC3 | 11 | 116829426 | T | C |
| rs2896019 | 23535911 | 80339 | PNPLA3 | umls:C0400966 | GWASCAT | Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan. | 0.264896707 | 2013 | PNPLA3 | 22 | 43937814 | T | G |
| rs3772627 | 23484035 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Gene-gene interaction between the AGTR1 gene and the patatin-like phospholipase domain-containing 3 (PNPLA3) gene, which we previously reported as associated with NAFLD in this sample, showed a strong interaction between AGTR1 (rs3772627), AGTRI (rs3772630) and PNPLA3 (rs738409) polymorphisms on NAFLD susceptibility (p = 0.007). | 0.264896707 | 2013 | AGTR1 | 3 | 148712467 | A | G |
| rs3772630 | 23484035 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Gene-gene interaction between the AGTR1 gene and the patatin-like phospholipase domain-containing 3 (PNPLA3) gene, which we previously reported as associated with NAFLD in this sample, showed a strong interaction between AGTR1 (rs3772627), AGTRI (rs3772630) and PNPLA3 (rs738409) polymorphisms on NAFLD susceptibility (p = 0.007). | 0.264896707 | 2013 | AGTR1 | 3 | 148708685 | T | C |
| rs386596107 | 21756849 | 6648 | SOD2 | umls:C0400966 | BeFree | The SOD2 C47T polymorphism influences NAFLD fibrosis severity: evidence from case-control and intra-familial allele association studies. | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
| rs397507444 | 23547829 | 4524 | MTHFR | umls:C0400966 | BeFree | The aim of this study was to investigate the relation between liver steatosis with plasma homocysteine level and MTHFR C677T and A1298C polymorphisms in Brazilian patients with NAFLD. | 0.001357209 | 2013 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 26031974 | 4524 | MTHFR | umls:C0400966 | BeFree | MTHFR 677C/T and 1298A/C mutations and non-alcoholic fatty liver disease. | 0.001357209 | 2015 | MTHFR | 1 | 11794407 | T | G |
| rs4240624 | 24477042 | 127018 | LYPLAL1 | umls:C0400966 | BeFree | By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD. | 0.000542884 | 2014 | LOC157273 | 8 | 9326721 | G | A |
| rs4240624 | 24477042 | 79660 | PPP1R3B | umls:C0400966 | BeFree | By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD. | 0.000814326 | 2014 | LOC157273 | 8 | 9326721 | G | A |
| rs4783819 | 24458218 | 51141 | INSIG2 | umls:C0400966 | BeFree | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4783819 in fat mass and obesity-associated gene (FTO); rs12970134 and rs17782313 in melanocortin-4 receptor gene (MC4R); and rs7566605, rs13428113, and rs9308762 in insulin-induced gene 2 [INSIG2]) were associated with NAFLD. | 0.000271442 | 2015 | FTO | 16 | 53782735 | G | C |
| rs4880 | 21756849 | 6648 | SOD2 | umls:C0400966 | BeFree | The SOD2 C47T polymorphism influences NAFLD fibrosis severity: evidence from case-control and intra-familial allele association studies. | 0.000271442 | 2012 | SOD2 | 6 | 159692840 | A | G |
| rs4952590 | 19961619 | 91461 | PKDCC | umls:C0400966 | GAD | [In this analysis we have identified new candidate regions related to atopy and suggest SGK493 as an atopy locus, although these results need further replication.] | 0.002367032 | 2009 | PKDCC | 2 | 42049781 | C | T |
| rs499765 | 25359230 | 26291 | FGF21 | umls:C0400966 | BeFree | The single nucleotide polymorphism rs499765 is associated with fibroblast growth factor 21 and nonalcoholic fatty liver disease in a Chinese population with normal glucose tolerance. | 0.001628651 | 2014 | NA | 19 | 48763133 | C | G |
| rs58542926 | 25457209 | 3630 | INS | umls:C0400966 | BeFree | Circulating triacylglycerol signatures and insulin sensitivity in NAFLD associated with the E167K variant in TM6SF2. | 0.008414698 | 2014 | TM6SF2 | 19 | 19268740 | C | T |
| rs58542926 | 25302781 | 80339 | PNPLA3 | umls:C0400966 | BeFree | A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty liver (P = 0.038; odds ratio [OR]: 1.37; 95% confidence interval [CI]: 1.02-1.84); nevertheless, conditioning on patatin-like phospholipase domain-containing 3 (PNPLA3)-rs738409 abolished this effect. | 0.264896707 | 2014 | TM6SF2 | 19 | 19268740 | C | T |
| rs58542926 | 25763607 | 53345 | TM6SF2 | umls:C0400966 | BeFree | Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M or TM6SF2 E167K genetic determinants of NAFLD. | 0.121628651 | 2015 | TM6SF2 | 19 | 19268740 | C | T |
| rs58542926 | 25763607 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M or TM6SF2 E167K genetic determinants of NAFLD. | 0.264896707 | 2015 | TM6SF2 | 19 | 19268740 | C | T |
| rs58542926 | 25820484 | 53345 | TM6SF2 | umls:C0400966 | BeFree | The TM6SF2 E167K variant was genotyped by TaqMan assays, steatosis graded according to the nonalcoholic fatty liver disease activity score, and necroinflammation and fibrosis graded and staged according to Ishak in Italian, and to Metavir in Swiss/German patients. | 0.121628651 | 2015 | TM6SF2 | 19 | 19268740 | C | T |
| rs58542926 | 25457209 | 53345 | TM6SF2 | umls:C0400966 | BeFree | Circulating triacylglycerol signatures and insulin sensitivity in NAFLD associated with the E167K variant in TM6SF2. | 0.121628651 | 2014 | TM6SF2 | 19 | 19268740 | C | T |
| rs58542926 | 24978903 | 53345 | TM6SF2 | umls:C0400966 | BeFree | TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease. | 0.121628651 | 2014 | TM6SF2 | 19 | 19268740 | C | T |
| rs6079395 | 20708005 | 140733 | MACROD2 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | MACROD2 | 20 | 14347253 | G | A |
| rs643608 | 20708005 | 100126693 | LINC00322 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | NA | 21 | 43348682 | C | T |
| rs6487679 | 20708005 | 5858 | PZP | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | NA | 12 | 9218736 | C | T |
| rs6591182 | 20708005 | 254102 | EHBP1L1 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | EHBP1L1 | 11 | 65582285 | T | G |
| rs6700896 | 22215535 | 3952 | LEP | umls:C0400966 | BeFree | This study was designed to assess the role of soluble leptin and LepRb in NAFLD and to investigate whether leptin receptor gene (LepR) single nucleotide polymorphism (SNP; ID rs6700896) influences NAFLD complicated with or without type 2 diabetes mellitus (T2DM). | 0.121085767 | 2012 | LEPR | 1 | 65624099 | C | T |
| rs6743931 | 19875103 | 85009 | MGC16025 | umls:C0400966 | GAD | [Although our findings require replication and validation, this study demonstrates the potential of genomewide association studies to discover genes and pathways that mediate adverse effects of antipsychotics.] | 0.002367032 | 2010 | NA | 2 | 239496966 | G | A |
| rs6982502 | 24389359 | 10221 | TRIB1 | umls:C0400966 | BeFree | A TRIB1 SNP, rs6982502, was identified in an enhancer sequence, modulated enhancer activity in reporter gene assays, and was significantly (P=9.39 × 10(-7)) associated with ultrasonographically diagnosed non-alcoholic fatty liver disease in a population of 5570 individuals. | 0.000542884 | 2014 | LOC105375745 | 8 | 125467120 | C | T |
| rs7077164 | 20708005 | 1305 | COL13A1 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | COL13A1 | 10 | 69823442 | C | T |
| rs738409 | 23023705 | 80339 | PNPLA3 | umls:C0400966 | BeFree | A genetic variant in PNPLA3 (PNPLA3(I148M)), a triacylglycerol (TAG) hydrolase, is a major risk factor for nonalcoholic fatty liver disease (NAFLD); however, the mechanism underlying this association is not known. | 0.264896707 | 2012 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 24707151 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Genotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) in 390 patients with NAFLD and 409 control subjects were determined by sequencing and polymerase chain reaction analysis. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 22792295 | 80339 | PNPLA3 | umls:C0400966 | BeFree | We aimed at studying the potential impact of the NAFLD-associated PNPLA3 rs738409 G-allele on NAFLD-related metabolic traits in hyperglycaemic individuals. | 0.264896707 | 2012 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 23849554 | 80339 | PNPLA3 | umls:C0400966 | BeFree | This study explicated symptoms in persons with NAFLD at higher risk of disease progression defined as the presence of one or two copies of the PNPLA3 (rs738409)-G allele. | 0.264896707 | 2013 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 21423719 | 80339 | PNPLA3 | umls:C0400966 | GWASCAT | In comparisons with 1,405 healthy controls from the Myocardial Genetics Consortium (MIGen), we observe significant associations with histologic NAFLD at variants in or near NCAN, GCKR, LYPLAL1, and PNPLA3, but not PPP1R3B. | 0.264896707 | 2011 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 19524579 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Our aims were to develop a method to accurately predict non-alcoholic fatty liver disease (NAFLD) and liver fat content based on routinely available clinical and laboratory data and to test whether knowledge of the recently discovered genetic variant in the PNPLA3 gene (rs738409) increases accuracy of the prediction. | 0.264896707 | 2009 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 21665509 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Non-alcoholic fatty liver disease (NAFLD) is commonly diagnosed in patients with obesity and type 2 diabetes mellitus (T2DM), and has been associated with the single nucleotide polymorphism (SNP) rs738409 in the PNPLA3 gene. | 0.264896707 | 2011 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 24477042 | 79660 | PPP1R3B | umls:C0400966 | BeFree | By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD. | 0.000814326 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 20373368 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Inherited factors play a major role in the predisposition to nonalcoholic fatty liver disease (NAFLD), and the rs738409 C-->G polymorphism of PNPLA3/adiponutrin, encoding for the isoleucine-to-methionine substitution at residue 148 (I148M) protein variant, has recently been recognized as a major determinant of liver fat content. | 0.264896707 | 2010 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 23510779 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Recently, a PNPLA3 gene variant (I148M) was strongly associated with NAFLD and higher ALT levels in obese adults, including Hispanics. | 0.264896707 | 2013 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 20034933 | 80339 | PNPLA3 | umls:C0400966 | BeFree | A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. | 0.264896707 | 2010 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 24607626 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Carriage of the PNPLA3 rs738409 C >G polymorphism confers an increased risk of non-alcoholic fatty liver disease associated hepatocellular carcinoma. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 25069572 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Role of the PNPLA3 I148M polymorphism in nonalcoholic fatty liver disease and fibrosis in Korea. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 22869157 | 80339 | PNPLA3 | umls:C0400966 | BeFree | The single nucleotide polymorphism (SNP) rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is associated with hepatic fat accumulation and disease progression in patients with non-alcoholic fatty liver disease and alcoholic liver disease (ALD). | 0.264896707 | 2013 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 23269818 | 80339 | PNPLA3 | umls:C0400966 | BeFree | PNPLA3 rs738409 increased the OR of NAFLD by 1.622 (95% CI: 1.071, 2.457; P = 0.023) in subjects with GC alleles and 2.659 (95% CI: 1.509, 4.686; P < 0.001) for GG alleles, as compared with CC alleles. | 0.264896707 | 2013 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 21893698 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Recently the common adiponutrin (PNPLA3) polymorphism p.I148M has been identified as a genetic determinant of severe forms of non-alcoholic fatty liver disease and alcoholic liver disease. | 0.264896707 | 2011 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 24689094 | 80339 | PNPLA3 | umls:C0400966 | BeFree | The common PNPLA3 (adiponutrin) variant p.I148M represents a major genetic driver of progression in non-alcoholic fatty liver disease (NAFLD). | 0.264896707 | 2015 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 21176169 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Association of the rs738409 polymorphism in PNPLA3 with liver damage and the development of nonalcoholic fatty liver disease. | 0.264896707 | 2010 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 22110053 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Regarding the latter, a sequence variation within the gene coding for patatin-like phospholipase encoding 3 (PNPLA3, rs738409) was found to modulate steatosis, necroinflammation and fibrosis in NAFLD. | 0.264896707 | 2012 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 24947770 | 80339 | PNPLA3 | umls:C0400966 | BeFree | The aim was to describe the different clinical presentations of non-alcoholic fatty liver disease on the basis of the patatin-like phospholipase domain-containing protein3 (PNPLA3) rs738409 gene variant. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 24417250 | 80339 | PNPLA3 | umls:C0400966 | BeFree | The G allele in PNPLA3 rs738409 increases the risk of NAFLD in the general population, especially in subjects without metabolic syndrome, independent of dietary pattern and metabolic factors. | 0.264896707 | 2013 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 23176674 | 80339 | PNPLA3 | umls:C0400966 | BeFree | A nonsynonymous single nucleotide polymorphism rs738409 (I148M) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) predisposes susceptibility to NAFLD; however, its association with steatosis grade is inconsistent in the literature. | 0.264896707 | 2012 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 23484035 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Gene-gene interaction between the AGTR1 gene and the patatin-like phospholipase domain-containing 3 (PNPLA3) gene, which we previously reported as associated with NAFLD in this sample, showed a strong interaction between AGTR1 (rs3772627), AGTRI (rs3772630) and PNPLA3 (rs738409) polymorphisms on NAFLD susceptibility (p = 0.007). | 0.264896707 | 2013 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 26136587 | 80339 | PNPLA3 | umls:C0400966 | BeFree | PNPLA3 I148M Variant Influences Circulating Retinol in Adults with Nonalcoholic Fatty Liver Disease or Obesity. | 0.264896707 | 2015 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 25801076 | 80339 | PNPLA3 | umls:C0400966 | BeFree | The PNPLA3/Adiponutrin rs738409 C/G single nucleotide polymorphism is associated with the severity of steatosis, steatohepatitis and fibrosis in patients with non-alcoholic fatty liver disease, as well as the severity of steatosis and fibrosis in patients with chronic hepatitis C (CHC). | 0.264896707 | 2015 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 23269818 | 10891 | PPARGC1A | umls:C0400966 | BeFree | The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAFLD, independent of the effect of the PNPLA3 rs738409 polymorphism in our population of obese Taiwanese children. | 0.081900093 | 2013 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 25939720 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Obesity is associated with non-alcoholic fatty liver disease (NAFLD), and the patatin-like phospholipase 3 (PNPLA3) rs738409 (Ile148Met, C>G) gene polymorphism is one of the most important genetic determinants of NAFLD. | 0.264896707 | 2015 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 23418085 | 80339 | PNPLA3 | umls:C0400966 | BeFree | In this study, we investigated the interactions of PNPLA3 rs738409 with a broad panel of metabolic and histologic characteristics of nonalcoholic fatty liver disease and nonalcoholic steatohepatitis (NASH) in patients with medically complicated obesity. | 0.264896707 | 2012 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 21381068 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease. | 0.264896707 | 2011 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 22884299 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Recently, a sequence variation within the gene encoding for patatin-like phospholipase containing 3 (PNPLA3, rs738409) was found to modulate steatosis, inflammation and fibrosis in NAFLD. | 0.264896707 | 2013 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 21745282 | 80339 | PNPLA3 | umls:C0400966 | BeFree | The PNPLA3 I148M polymorphism is associated with insulin resistance and nonalcoholic fatty liver disease in a normoglycaemic population. | 0.264896707 | 2011 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 23913731 | 80339 | PNPLA3 | umls:C0400966 | BeFree | The aim of the study was to determine whether increased adipocyte size is associated with increased liver fat content due to nonalcoholic fatty liver disease (NAFLD) in humans independent of obesity, fat distribution and genetic variation in the patatin-like phospholipase domain-containing 3 gene (PNPLA3; adiponutrin) at rs738409. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 24009255 | 404663 | LINC01194 | umls:C0400966 | BeFree | 'PNPLA3 NAFLD' is associated with a relative deficiency of TAGs, supporting the idea that the I148M variant impedes intrahepatocellular lipolysis rather than stimulates TAG synthesis. | 0.000271442 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 21878620 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Expression and characterization of a PNPLA3 protein isoform (I148M) associated with nonalcoholic fatty liver disease. | 0.264896707 | 2011 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 25763607 | 53345 | TM6SF2 | umls:C0400966 | BeFree | Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M or TM6SF2 E167K genetic determinants of NAFLD. | 0.121628651 | 2015 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 22719876 | 80339 | PNPLA3 | umls:C0400966 | GWASCAT | Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese. | 0.264896707 | 2012 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 21423719 | 80339 | PNPLA3 | umls:C0400966 | GAD | [In comparisons with 1,405 healthy controls from the Myocardial Genetics Consortium (MIGen), we observe significant associations with histologic NAFLD at variants in or near NCAN, GCKR, LYPLAL1, and PNPLA3, but not PPP1R3B.] | 0.264896707 | 2011 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 25763607 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M or TM6SF2 E167K genetic determinants of NAFLD. | 0.264896707 | 2015 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 25624712 | 80339 | PNPLA3 | umls:C0400966 | BeFree | PNPLA3 I148M variant in nonalcoholic fatty liver disease: demographic and ethnic characteristics and the role of the variant in nonalcoholic fatty liver fibrosis. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 21745286 | 80339 | PNPLA3 | umls:C0400966 | BeFree | The PNPLA3 rs738409 C>G polymorphism has been found to be strongly associated with non-alcoholic fatty liver disease and with alcoholic liver disease. | 0.264896707 | 2011 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 25646328 | 80339 | PNPLA3 | umls:C0400966 | BeFree | A single nucleotide polymorphism (SNP) of the patatin-like phospholipase-3 (PNPLA3)/adiponutrin gene (rs738409 C>G) is strongly associated with nonalcoholic fatty liver disease; to our knowledge, no data are available on the impact of this PNPLA3 SNP on liver and metabolic outcomes during pregnancy in patients with gestational diabetes (GD). | 0.264896707 | 2015 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 25641744 | 80339 | PNPLA3 | umls:C0400966 | BeFree | PNPLA3 polymorphisms (rs738409) and non-alcoholic fatty liver disease risk and related phenotypes: a meta-analysis. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 24477042 | 127018 | LYPLAL1 | umls:C0400966 | BeFree | By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD. | 0.000542884 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 25290313 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Association between the PNPLA3 I148M polymorphism and non-alcoholic fatty liver disease in the Uygur and Han ethnic groups of northwestern China. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 24009255 | 80339 | PNPLA3 | umls:C0400966 | BeFree | Circulating triacylglycerol signatures in nonalcoholic fatty liver disease associated with the I148M variant in PNPLA3 and with obesity. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 25302781 | 80339 | PNPLA3 | umls:C0400966 | BeFree | A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty liver (P = 0.038; odds ratio [OR]: 1.37; 95% confidence interval [CI]: 1.02-1.84); nevertheless, conditioning on patatin-like phospholipase domain-containing 3 (PNPLA3)-rs738409 abolished this effect. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 24074360 | 80339 | PNPLA3 | umls:C0400966 | BeFree | The I148M variant of PNPLA3 reduces the response to docosahexaenoic acid in children with non-alcoholic fatty liver disease. | 0.264896707 | 2014 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 22898488 | 80339 | PNPLA3 | umls:C0400966 | BeFree | The I148M PNPLA3 variant is associated with adiponectin levels in patients with NAFLD and in healthy subjects, but in the presence of adiponectin resistance not in CHC patients. | 0.264896707 | 2012 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 20648474 | 80339 | PNPLA3 | umls:C0400966 | BeFree | I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease. | 0.264896707 | 2010 | PNPLA3 | 22 | 43928847 | C | G |
| rs738409 | 21488075 | 80339 | PNPLA3 | umls:C0400966 | BeFree | A recent genome-wide association study identified a genetic variant in the patatin-like phospholipase-3 (PNPLA3) gene (rs738409 C>G) associated with steatosis that was further demonstrated to influence severity of fibrosis in nonalcoholic fatty liver disease. | 0.264896707 | 2011 | PNPLA3 | 22 | 43928847 | C | G |
| rs7566605 | 24458218 | 51141 | INSIG2 | umls:C0400966 | BeFree | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4783819 in fat mass and obesity-associated gene (FTO); rs12970134 and rs17782313 in melanocortin-4 receptor gene (MC4R); and rs7566605, rs13428113, and rs9308762 in insulin-induced gene 2 [INSIG2]) were associated with NAFLD. | 0.000271442 | 2015 | LOC105373988 | 2 | 118078449 | C | G |
| rs7632299 | 20708005 | 285195 | SLC9A9 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | SLC9A9 | 3 | 143337625 | G | A |
| rs766432 | 20183929 | 53335 | BCL11A | umls:C0400966 | GAD | [A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.] | 0.002367032 | 2010 | BCL11A | 2 | 60492835 | C | A |
| rs780094 | 24477042 | 79660 | PPP1R3B | umls:C0400966 | BeFree | By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD. | 0.000814326 | 2014 | GCKR | 2 | 27518370 | T | C |
| rs780094 | 25167786 | 2646 | GCKR | umls:C0400966 | BeFree | Although studies have suggested that rs780094, a common variant in the glucokinase regulatory (GCKR) gene to be associated with type 2 diabetes, obesity, and their related traits, the genetic basis of the association between GCKR rs780094 and nonalcoholic fatty liver disease (NAFLD) is still being examined. | 0.001900093 | 2014 | GCKR | 2 | 27518370 | T | C |
| rs780094 | 25167786 | 441911 | OR10J3 | umls:C0400966 | BeFree | Overall, the pooled result indicated that the GCKR rs780094 was significantly associated with increased risk of NAFLD (additive: odds ratio (OR) 1.25, 95% confidence interval (CI) 1.14-1.36, P < 0.00001). | 0.000271442 | 2014 | GCKR | 2 | 27518370 | T | C |
| rs780094 | 24477042 | 127018 | LYPLAL1 | umls:C0400966 | BeFree | By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD. | 0.000542884 | 2014 | GCKR | 2 | 27518370 | T | C |
| rs780094 | 25167786 | 2645 | GCK | umls:C0400966 | BeFree | Common variant in the glucokinase regulatory gene rs780094 and risk of nonalcoholic fatty liver disease: a meta-analysis. | 0.000814326 | 2014 | GCKR | 2 | 27518370 | T | C |
| rs7928794 | 19875103 | 54765 | TRIM44 | umls:C0400966 | GAD | [Although our findings require replication and validation, this study demonstrates the potential of genomewide association studies to discover genes and pathways that mediate adverse effects of antipsychotics.] | 0.002367032 | 2010 | TRIM44 | 11 | 35679688 | A | C |
| rs8099917 | 22257210 | 282617 | IFNL3 | umls:C0400966 | BeFree | No significant differences were found in allelic and genotypic frequencies of rs8099917 IL28B gene polymorphism between NAFLD subjects and controls. | 0.000814326 | 2012 | NA | 19 | 39252525 | T | G |
| rs8192678 | 23602251 | 10891 | PPARGC1A | umls:C0400966 | BeFree | Although clinical evidence suggests that Gly482Ser polymorphism of PGC-1α is associated with an increased incidence of nonalcoholic fatty liver disease, a direct role for Gly482Ser mutation in altering PGC-1α actions on hepatocyte fat deposition remains to be explored. | 0.081900093 | 2013 | PPARGC1A | 4 | 23814039 | C | T |
| rs8192678 | 23269818 | 10891 | PPARGC1A | umls:C0400966 | BeFree | The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAFLD, independent of the effect of the PNPLA3 rs738409 polymorphism in our population of obese Taiwanese children. | 0.081900093 | 2013 | PPARGC1A | 4 | 23814039 | C | T |
| rs8396 | 20037589 | 5481 | PPID | umls:C0400966 | GAD | [A genome-wide perspective of genetic variation in human metabolism.] | 0.002367032 | 2010 | PPID | 4 | 158709665 | T | C |
| rs855791 | 23144979 | 164656 | TMPRSS6 | umls:C0400966 | BeFree | The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic fatty liver disease. | 0.000271442 | 2012 | TMPRSS6 | 22 | 37066896 | A | T,G |
| rs887304 | 20708005 | 84766 | CRACR2A | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | CRACR2A | 12 | 3648382 | T | C |
| rs894177 | 20708005 | 9435 | CHST2 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | NA | 3 | 143175569 | G | A |
| rs9302841 | 19875103 | 54715 | RBFOX1 | umls:C0400966 | GAD | [Although our findings require replication and validation, this study demonstrates the potential of genomewide association studies to discover genes and pathways that mediate adverse effects of antipsychotics.] | 0.002367032 | 2010 | RBFOX1 | 16 | 7177121 | T | A |
| rs9308762 | 24458218 | 51141 | INSIG2 | umls:C0400966 | BeFree | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4783819 in fat mass and obesity-associated gene (FTO); rs12970134 and rs17782313 in melanocortin-4 receptor gene (MC4R); and rs7566605, rs13428113, and rs9308762 in insulin-induced gene 2 [INSIG2]) were associated with NAFLD. | 0.000271442 | 2015 | INSIG2 | 2 | 118106298 | C | T |
| rs9376092 | 20183929 | 10767 | HBS1L | umls:C0400966 | GAD | [A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.] | 0.002367032 | 2010 | LOC105378010 | 6 | 135106006 | C | A |
| rs9584805 | 20708005 | 10160 | FARP1 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | FARP1 | 13 | 98341776 | A | G |
| rs959903 | 20708005 | 23231 | SEL1L3 | umls:C0400966 | GAD | [A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts.] | 0.002367032 | 2010 | SEL1L3 | 4 | 25808474 | G | A |
| rs9930506 | 24458218 | 51141 | INSIG2 | umls:C0400966 | BeFree | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4783819 in fat mass and obesity-associated gene (FTO); rs12970134 and rs17782313 in melanocortin-4 receptor gene (MC4R); and rs7566605, rs13428113, and rs9308762 in insulin-induced gene 2 [INSIG2]) were associated with NAFLD. | 0.000271442 | 2015 | FTO | 16 | 53796553 | A | G |
| rs9939609 | 24458218 | 51141 | INSIG2 | umls:C0400966 | BeFree | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4783819 in fat mass and obesity-associated gene (FTO); rs12970134 and rs17782313 in melanocortin-4 receptor gene (MC4R); and rs7566605, rs13428113, and rs9308762 in insulin-induced gene 2 [INSIG2]) were associated with NAFLD. | 0.000271442 | 2015 | FTO | 16 | 53786615 | T | A |
| rs9939609 | 24458218 | 79068 | FTO | umls:C0400966 | BeFree | The FTO rs9939609 A-allele increased risk of NAFLD and MC4R rs12970134 was associated with ALT level through an effect on BMI. | 0.000271442 | 2015 | FTO | 16 | 53786615 | T | A |
| rs9939609 | 24458218 | 4160 | MC4R | umls:C0400966 | BeFree | The FTO rs9939609 A-allele increased risk of NAFLD and MC4R rs12970134 was associated with ALT level through an effect on BMI. | 0.000271442 | 2015 | FTO | 16 | 53786615 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 881 |
|---|---|
| Disease | non-alcoholic fatty liver disease |
| Case | (Waiting for update.) |