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 SNP rs738409 in the adiponutrin gene (PNPLA3) is a well described factor for steatosis. 23870067 2014
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE Stepwise logistic regression analysis revealed that the strongest factor independently associated with steatosis was the carriage of the PNPLA3 rs738409 GG genotype (odds ratio [OR]/95% confidence intervals [CI]:2.34/1.557-3.515, P < 0.001). 26139292 2015
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 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 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 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 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 The rs738409 genetic variant in the patatin-like phospholipase domain-containing 3 (PNPLA3, adiponutrin) gene has been implicated as a genetic determinant of the entire spectrum of liver diseases, ranging from steatosis, chronic hepatitis, cirrhosis and ultimately to HCC. 23333103 2013
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The rs738409 polymorphism was only significantly associated with risk of simple steatosis in the allele contrast and had no effect in the other genetic models. 25791171 2015
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The I148M variant has a strong impact on the full spectrum of liver damage related to fatty liver, encompassing non-alcoholic steatohepatitis, advanced fibrosis, and hepatocellular carcinoma, and influences the response to therapeutic approaches. 26409295 2016
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The p.I148M variant leads to macrovescicular steaosis and predisposes to liver disorders from steatohepatitis to fibrosis. 30308089 2018
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The amount of abdominal fat can increase the association of PNPLA3 p.I148M with liver steatosis. 23808989 2013
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The association of PNPLA3 p.I148M with liver steatosis increased with the greater amount of abdominal fat, irrespective of BMI. 25986529 2015
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 G allele of rs738409 (PNPLA3) and the T allele of rs780094 (GCKR) were associated with HS with a high level of ALT (odds ratio [OR], 1.36; P = .01; and OR, 1.30; P = .03, respectively). 23416328 2013
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The G-allele of PNPLA3 rs738409 was associated with NAFLD (odds ratio [OR] 1.55, 95% confidence interval 1.13-2.11, P = 0.006) and moderate-to-severe steatosis (OR 3.77, 95% confidence interval 1.78-7.98, P = 0.001) adjusted for age, sex, and BMI standard deviation score. 25522307 2015
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The genetic polymorphism I148M of the patatin-like phospholipase domain-containing 3 (PNPLA3) is associated with hepatic steatosis and its progression to steatohepatitis (NASH), fibrosis and cancer. 29116096 2017
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The genetic polymorphism with an isoleucine-to-methionine substitution at position 148 (rs738409 C>G) in the patatin-like phospholipase domain protein 3 (PNPLA3) gene confers risk of steatosis. 25964223 2015
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The Impact of PNPLA3 rs738409 SNP on Liver Fibrosis Progression, Portal Hypertension and Hepatic Steatosis in HIV/HCV Coinfection. 26599080 2015
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The influence of recipient and donor TM6SF2 genotypes, PNPLA3 rs738409 genotypes and nongenetic factors on the steatosis grade assessed 6 - 30 months after transplantation was analyzed by ordinal logistic regression. 31356578 2020
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
0.100 GeneticVariation BEFREE The patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 C > G single nucleotide polymorphism (SNP) has been associated with steatosis and fibrosis in previous NAFLD populations in which cirrhotic patients were very poorly represented. 27150500 2016
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 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 The PNPLA3 I148M variant is associated with the ultrasonography-determined steatosis degree in Chinese population. 23176674 2012