rs267606959
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
|
20883824 |
2011 |
rs267606959
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
|
20142534 |
2010 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs12979860
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Interferon-λ rs12979860 genotype and liver fibrosis in viral and non-viral chronic liver disease.
|
25740255 |
2015 |
rs1800562
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis.
|
25495562 |
2015 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |