Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606959
rs267606959
A 0.700 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824

2011

dbSNP: rs267606959
rs267606959
A 0.700 CausalMutation CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534

2010

dbSNP: rs12979860
rs12979860
0.100 GeneticVariation BEFREE The <i>IL28B</i> rs12979860 CT/TT genotypes (OR = 3.44, 95% CI [2.12-5.58], <i>p</i> < 0.001), bAt haplotype (OR = 2.02, 95% CI [1.04-3.91], <i>p</i> = 0.03), pre-treatment serum HCV RNA (logIU/mL; OR = 1.73, 95% CI [1.31-2.28], <i>p</i> < 0.001), advanced liver fibrosis (OR = 1.68, 95% CI [1.10-2.58], <i>p</i> = 0.02), and HCV genotype 1 (OR = 1.59, 95% CI [1.07-2.37], <i>p</i> = 0.02) independently predicted poor response. 31565578

2019

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE This study aims to assess the impact of IL28B rs8099917 polymorphism on CHC genotype 4 (G4) susceptibility and liver fibrosis progression individually; and in combination with PNPLA3 rs738409.<b>Patients and methods:</b> IL28B rs8099917 and PNPLA3 rs738409 were genotyped in 150 Egyptian CHC patients and 175 healthy controls using real-time PCR.<b>Results:</b> IL28B rs8099917 genotype distribution significantly differs in healthy individuals versus CHC patients (<i>p</i> = .018); and in low versus advanced fibrosis IL28B (<i>p</i> = .013). 31793339

2019

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE In individuals with diabetes and NAFLD, PNPLA3 gene rs738409 C > G polymorphism is a marker for the risk of significant liver fibrosis and cardiovascular disease and may be associated with better glycemic control. 31377187

2019

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE In multivariate models adjusting for histologic features of nonalcoholic steatohepatitis and liver fibrosis, PNPLA3 I148M is associated with a decrease in VLDL particle size. 28362682

2019

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE PNPLA3 rs738409 polymorphism appears to be related to the increased progression of liver fibrosis in HCV infected patients. 29674183

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The rs738409 C>G p.I148M variant in the patatin-like phospholipase domain containing 3 (PNPLA3)-gene promotes triglyceride accumulation in hepatocytes and hepatic stellate cell activation and has previously been linked to hepatic steatosis/liver fibrosis. 29956823

2018

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Our study showed that PNPLA3 rs738409 and RNF7 rs16851720 confer an increased risk of developing liver fibrosis and cirrhosis in this Eastern European population, while the MERTK and PCSK7 SNPs are not associated with these conditions. 28338112

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE This study assessed the contribution of the PNPLA3 rs738409 polymorphism with regard to the steatosis and degree of liver fibrosis in Brazilian patients diagnosed with chronic hepatitis C. 29258449

2017

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE PNPLA3 rs738409 polymorphism was associated with the severity of liver fibrosis in patients coinfected with HIV and hepatitis C virus, suggesting that this polymorphism might also play a significant role in the progression of hepatic fibrosis in this group of patients. 26760234

2016

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Our results strongly suggest that the rs738409 polymorphism is associated with liver fibrosis progression in HIV/HCV-coinfected patients. 27973562

2016

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE PNPLA3 I148M is a common variant robustly associated with liver fibrosis but the mechanisms underlying this association are unknown. 27742777

2016

dbSNP: rs738409
rs738409
0.100 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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE PNPLA3 rs738409 (C>G) was associated with the risk of both advanced liver fibrosis and steatosis in patients with CHC, especially among Caucasian populations. 26419236

2016

dbSNP: rs12979860
rs12979860
0.100 GeneticVariation BEFREE Multivariate analysis revealed IL28B rs12979860 CC genotype (OR = 3.12; 95% CI, 1.72-5.67; P < 0.001), hepatitis C virus RNA < 400,000 IU/ml (OR = 2.21; 95% CI, 1.22-3.99, P < 0.05), age < 45 years (OR = 2.03; 95% CI, 1.11-3.68; P < 0.05), and liver fibrosis stage 0-1 (OR = 1.64; 95% CI, 1.01-2.65, P < 0.05) were independent factors for SVR. 26339796

2015

dbSNP: rs12979860
rs12979860
0.100 GeneticVariation BEFREE Interferon-λ rs12979860 genotype and liver fibrosis in viral and non-viral chronic liver disease. 25740255

2015

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis. 25495562

2015

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Finally, we briefly highlight future research that may elucidate the specific mechanisms of the PNPLA3 I148M variant in fibrogenesis, which, in turn, provides a theoretical foundation and valuable experimental data for the clinical management of nonalcoholic fatty liver fibrosis. 25624712

2015

dbSNP: rs738409
rs738409
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

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE Stepwise logistic regression analysis revealed that factors predictive of advanced liver fibrosis included age (odds ratio [OR]: 1.02, 95% confidence intervals [CI]: 1.008-1.037, p=0.002), diabetes (OR: 1.81, CI: 1.236-2.653, p=0.002), α-fetoprotein (OR: 1.006, CI: 1.001-1.01, p=0.01), platelet counts (OR: 1.009, CI: 1.006-1.012, p<0.001), and PNPLA3 rs738409 CG/GG genotype (OR: 1.34, CI: 1.006-1.785, p=0.046). 25457210

2015

dbSNP: rs738409
rs738409
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

dbSNP: rs12979860
rs12979860
0.100 GeneticVariation BEFREE IL28B rs12979860 (IL28B) non-C/C, advanced liver fibrosis and high HCV RNA were considered as established risk factors for treatment failure. 24342953

2014

dbSNP: rs1800562
rs1800562
0.100 GeneticVariation BEFREE Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p14) in recent GWAS and liver fibrosis (PNPLA3) in recent meta-analysis were analyzed for association with either liver cirrhosis or advanced fibrosis in 148 German HFE C282Y homozygotes. 24556216

2014

dbSNP: rs738409
rs738409
0.100 GeneticVariation BEFREE The PNPLA3 I148M sequence variant favors hepatic lipid accumulation and confers susceptibility to hepatic fibrosis and hepatocellular carcinoma. 25171251

2014