rs738409, PNPLA3

N. diseases: 88
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Steatosis, ballooning, and lobular inflammation each were associated independently with significant fibrosis (P < .001); age, adiposity, fasting hyperglycemia, and the PNPLA3 I148M variant also were associated with fibrosis. 30708111 2019
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation 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. 25302781 2015
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE A genetic variant in adiponutrin (PNPLA3) gene, rs738409 C/G, is associated with steatosis, severity, and progression of liver fibrosis in CHC patients, and predicts treatment outcome in difficult-to-cure HCV-infected patients with advanced fibrosis. 26389885 2015
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE A single nucleotide polymorphism (SNP), the rs738409, in the patatin like phospholipase 3 gene (PNPLA3) has been recently associated with increased hepatic steatosis and ALT levels in adults and children. 22629460 2012
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Although the PNPLA3 rs738409 G allele has been associated with the risk of steatosis in CHB patients, no association between this polymorphism and the risk of cirrhosis was seen. 29218813 2018
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Among 270 HBV-infected patients, concurrent fatty liver was found in 107 patients (39.6%) and was associated with metabolic risks, cirrhosis (P = 0.016) and PNPLA3 rs738409 CG/GG genotype (P = 0.002). 27547913 2017
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE An isoleucine>methionine mutation at position 148 in the PNPLA3 gene (p.I148M, rs738409) has recently been identified as a susceptibility factor for liver damage in steatohepatitis. 22087248 2011
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE As PNPLA3 I148M is a strong and inherited determinant of liver fat without affecting insulin resistance and lipid levels, these data suggest that steatosis has a causal role in determining serum Fetuin-A levels. 24828988 2014
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Associations between the rs738409 polymorphism of the PNPLA3 gene genotype GG and hepatic steatosis and advanced fibrosis were observed. 29258449 2017
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Associations of the single nucleotide polymorphisms (SNP) PNPLA3 rs738409 and TM6SF2 rs58542926 with hepatic steatosis have recently been established. 26847197 2016
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Before 2008, candidate gene studies based on prior knowledge of pathophysiology of fatty liver yielded conflicting results.In 2008, Romeo et al. published the first genome wide association study and reported the strongest genetic signal for the presence of fatty liver (PNPLA3, patatin-like phospholipase domain containing 3; rs738409). 22093607 2012
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Carriage of the PNPLA3 rs738409 C >G polymorphism is not only associated with greater risk of progressive steatohepatitis and fibrosis but also of HCC. 24607626 2014
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE CT-defined fatty liver is common among men at risk for HIV infection and is associated with greater visceral adiposity, HOMA-IR, and PNPLA3 (rs738409). 24642579 2014
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Donor PNPLA3 rs738409 genotype is a risk factor for graft steatosis. A post-transplant biopsy-based study. 29396131 2018
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Expression of PNPLA3(I148M), but not PNPLA3(WT), in liver recapitulated the fatty liver phenotype as well as other metabolic features associated with this allele in humans. 23023705 2012
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Frequencies of allele PNPLA3 rs738409(G) in individuals with steatosis and normal alanine aminotransferase (ALT) and AST levels were lower than in alcoholics without steatosis and normal ALT/AST (P(combined) = 0.03). 21254164 2011
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Furthermore, the I148M variant represents a major determinant of progression of alcohol related steatohepatitis to cirrhosis, and to influence fibrogenesis and related clinical outcomes in chronic hepatitis C virus hepatitis, and possibly chronic hepatitis B virus hepatitis, hereditary hemochromatosis and primary sclerosing cholangitis. 24222941 2013
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE G allele carriers of the SNP rs738409 had higher liver fat (P < 0.0001) and an odds ratio of 2.38 (95% CI 1.37-4.20) for having fatty liver compared to C allele homozygotes. 19651814 2009
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE General linear models were used to detect interactive effects between the PNPLA3 rs738409 genotype and 4 year changes in body weight on liver steatosis and glucose metabolism. 30673802 2019
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic resonance imaging and circulating levels of cytokeratin-18 (CK-18) fragments, a robust NASH biomarker, and to explore the impact on this association of ethnicity, insulin resistance, and single nucleotide polymorphisms (SNPs) associated with steatosis (rs738409 in the PNPLA3, rs1260326 in the GCKR) or NASH severity (rs2645424 in the FDFT1). 23275357 2013
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Homozygosity for the PNPLA3 p.I148M polymorphism influences steatosis and fibrogenesis in chronic hepatitis C (CHC). 22530607 2012
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE However, IL28B rs12979860 and PNPLA3 rs738409 modify steatosis. 26259026 2016
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE However, its association with non-invasive ultrasound- and magnetic resonance (MR)-based markers of liver fibrosis and steatosis, the enhanced liver fibrosis (ELF) score, liver biopsy, as well as rs738409 in PNPLA3, has not been elucidated in NAFLD, so far. 28914407 2017
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE However, PNPLA3 rs2294918 E434K decreased PNPLA3 expression, lessening the effect of the I148M variant on the predisposition to steatosis and liver damage. 26605757 2016
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Human immunodeficiency virus (HIV)-induced metabolic abnormalities and antiretroviral therapy (ART), genetic factors, most importantly the rs738409 C > G p.I148M variant in the patatin-like phospholipase domain containing 3 (PNPLA3)-gene, as well as hepatitis C virus (HCV) coinfection may all cause hepatic steatosis (HS). 31067123 2019