Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The steatosis grade was not associated with rs738409. 21176169

2010

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The PNPLA3 (rs738409 C>G) polymorphism favors steatosis and fibrosis progression in CHC. 21488075

2011

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Homozygosity for the PNPLA3 p.I148M polymorphism influences steatosis and fibrogenesis in chronic hepatitis C (CHC). 22530607

2012

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The rs738409 GG genotype was associated with advanced fibrosis and steatosis, but not with HOMA-IR. 22634340

2012

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation 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. 22884299

2013

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The I148M PNPLA3 polymorphism influences serum adiponectin in patients with fatty liver and healthy controls. 22898488

2012

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
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