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 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 In patients with NAFLD, adiponutrin rs738409 C-->G genotype, encoding for I148M, is associated with the severity of steatosis and fibrosis and the presence of nonalcoholic steatohepatitis. 20373368 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The PNPLA3 rs738409 polymorphism is associated with steatosis severity, hepatocellular ballooning, lobular inflammation, and perivenular fibrosis in pediatric NAFLD. 20648474 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE In this large cohort of histologically proven NAFLD, we confirm the association of the rs738409 G allele with steatosis and describe its association with histological severity. 20684021 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The steatosis grade was not associated with rs738409. 21176169 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE In a case only analysis of G allele of rs738409 in PNPLA3 was associated with a decreased risk of zone 3 centered steatosis (OR = 0.46, 95% CI = 0.36-0.58; P = 5.15 x 10(-11)). 20648472 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Recently, the PNPLA3 gene I148M (rs738409) variant was demonstrated to be strongly associated with hepatic steatosis in obese adults. 20546964 2010
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The rs738409 PNPLA3 genotype influences steatosis development in CHC and is independently associated with cirrhosis and other steatosis-related clinical outcomes, such as lack of response to antiviral treatment and possibly HCC. 21319195 2011
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 SNP rs738409 in PNPLA3 was significantly associated with liver density (P=0.0075) and hepatic steatosis (P=0.0350), but not with blood glucose, HbA(1c), total cholesterol, triglycerides, high-density or low-density lipoprotein levels or liver function tests (P=0.15-0.96). 21665509 2011
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The rs738409 SNP in PNPLA3 is associated with an increased risk of steatosis in patients infected with HCV genotypes non-3. 21236304 2011
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The PNPLA3 (rs738409 C>G) polymorphism favors steatosis and fibrosis progression in CHC. 21488075 2011
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 We studied the impact of rs738409 on clinical and biological parameters, together with histological staging of steatosis and fibrosis. 21334404 2011
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Previous studies of the PNPLA3 I148M</span> sequence variant in HCV infected individuals have reported an association between this variant and prevalence of steatosis, fibrosis, and cirrhosis. 22978414 2012
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 The association of the PNPLA3 I148M protein variant (p.I148M) with steatosis, fibrosis stage, and cirrhosis was evaluated by logistic regression analysis. 22719190 2012
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The rs738409 GG genotype was associated with advanced fibrosis and steatosis, but not with HOMA-IR. 22634340 2012
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 The PNPLA3 I148M variant is associated with the ultrasonography-determined steatosis degree in Chinese population. 23176674 2012
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 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 The I148M (rs738409) genetic variant of patatin-like phospholipase domain-containing 3 gene (PNPLA3) is known to modulate hepatic triglyceride accumulation, leading to steatosis. 22724004 2012
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The I148M PNPLA3 polymorphism influences serum adiponectin in patients with fatty liver and healthy controls. 22898488 2012
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE This gain of function provides a plausible biochemical mechanism for the development of liver steatosis in subjects carrying the I148M variant. 22560221 2012