Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE The PNPLA3 p.I148M, TM6SF2 p.E167K, and MBOAT7 rs641738 variants represent genetic risk factors for nonalcoholic fatty liver disease (NAFLD). 27836992

2017

dbSNP: rs738409
rs738409
0.900 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

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE In this study, we aimed to determine: (1) the upper limit of normal HOMA-IR in two population-based cohorts; (2) the HOMA-IR corresponding to NAFLD; (3) the effect of sex and PNPLA3 genotype at rs738409 on HOMA-IR; and (4) inter-laboratory variations in HOMA-IR. 28660493

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE The I148M variant of the patatin-like phospholipase domain-containing 3 gene (PNPLA3 polymorphism) was most present in those with NAFLD only (p=0.008). 27423871

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE Here we show that adiposity significantly amplifies the effect of three sequence variants (encoding PNPLA3 p.I148M, TM6SF2 p.E167K, and GCKR p.P446L) associated with nonalcoholic fatty liver disease (NAFLD). 28436986

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE The updated genetic association study (1362-cases, 392-controls) showed replicated association (P=.045, 1-tailed) with NAFLD at a candidate locus: PNPLA3 (rs738409). 28544258

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE The PNPLA3 rs738409 GG polymorphism was associated with a 27-fold increased risk of development of NAFLD (odds ratio=27.8, 95% confidence interval: 3.5-218.4; P=0.002). 28253210

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE Page 178, Fig.3: The following note should be included as the last line of the figure legend: "The figure has been adapted from its original published in He S, <i>et al.</i> A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis.J Biol Chem 2010;285:6706-6715. 28452211

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE Lean patients with rs738409 C>G in PNPLA3 should be monitored for liver disease progression; studies including large series of patients with lean NAFLD will clarify the possible role of TM6SF2 polymorphisms. 28554682

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE In children with NAFLD, the risk of severe steatosis is increased by SGA at birth, independent of and in addition to other powerful risk factors (insulin-resistance and I148M variant of the PNPLA3 gene). 28555633

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE Patatin-like phospholipase domain containing 3 (PNPLA3) gene I148M variant is a known determinant of NAFLD. 29150621

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE This study has provided novel data confirming that the OGTT-derived fold-change TG<sub>OGTT</sub> and 2-h glucose level, together with the rs738409 C>G SNP in PNPLA3, allow calculation of an extended FLI that considerably improves its power to predict NAFLD. 28089502

2017

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE We found that rs139051 did not independently affect the NAFLD risk, whilst rs738409 did not significantly modulate <i>PNPLA3</i> transcription but was associated with NAFLD risk. 27744419

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE NAFLD is further favored by the patatin-like phospholipase domain-containing 3 (PNPLA3) p.I148M, transmembrane 6 superfamily member 2 (TM6SF2) p.E167K, and membrane-bound O-acyltransferase domain containing 7 (MBOAT7) rs641738 variants. 27576208

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE The PNPLA3 (adiponutrin) variant p.I148M has been identified as common genetic modifier of NAFLD. 26264356

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE The PNPLA3 rs738409 GG genotype increases susceptibility of NASH in severely obese Asians with NAFLD and correlates to histologic severity of NAFLD. 25240529

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE In conclusion, the results of the pooled estimates in patients with NAFLD showed that carriers of the T allele (EK + KK), when compared with homozygous subjects for the C allele (EE genotype) have increased levels of aminotransferases; however, this increase represents -2.5 (9.8%) and 1.2 (5%) IU/L of ALT and AST respectively, which is fairly small compared with the large effect of PNPLA3- rs738409-G allele that is associated with a -28% increase in serum ALT. 27278285

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE The PNPLA3 rs738409 C > G polymorphism is associated with the risk of progression to cirrhosis in NAFLD patients. 27150500

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE This is the first study to report the interaction between the PNPLA3 rs738409 polymorphism and physical activity or sedentary behavior on NAFLD, providing new clues on the function of the PNPLA3 gene, which will also be useful for future risk assessment and personalized treatment of NAFLD. 27905898

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE PNPLA3 rs738409 polymorphism is associated with fatty liver disease, alcoholic or non-alcoholic (NAFLD) and hepatocellular carcinoma (HCC). 26493626

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE After adjusting for sex, age, serum triglycerides, total cholesterol, body mass index, and the PNPLA3 rs738409 polymorphism, the APOC3 rs2070666 A allele was an independent risk factor for NAFLD with an odds ratio (OR) of 3.683 and 95 % confidence interval (CI) of 1.037-13.084. 27059980

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent risk factors for non-alcoholic fatty liver disease (NAFLD). 26745555

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE The most significant association reported to date is the robust association of the PNPLA3 I148M variant with susceptibility to NAFLD. 26500201

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE Besides rs738409 I148M, the rs2294918 G>A polymorphism (E434K sequence variant) was over-represented in NAFLD (adjusted P = 0.01). 26605757

2016

dbSNP: rs738409
rs738409
0.900 GeneticVariation BEFREE PNPLA3 rs738409 G allele carriers were found to be more susceptible to the metabolic-related hepatic steatosis, and developed NAFLD and liver fibrosis despite presenting relatively better metabolic statuses and lower risks for carotid atherosclerosis. 26765961

2016