|
rs1014959895
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1251713297
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1554888939
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs886041065
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Steatosis, ballooning, and lobular inflammation each were associated independently with significant fibrosis (P < .001); age, adiposity, fasting hyperglycemia, and the PNPLA3 I148M variant also were associated with fibrosis.
|
30708111 |
2019 |
|
rs1800562
|
|
|
0.030 |
GeneticVariation |
BEFREE |
C282Y/H63D compound heterozygotes and other non-C282Y homozygotes which express the hepatic hemochromatosis phenotype frequently have evidence of steatosis or chronic hepatitis and lower body iron stores than C282Y homozygotes.
|
19359997 |
2009 |
|
rs1799945
|
|
|
0.060 |
GeneticVariation |
BEFREE |
H63D mutations were associated with higher steatosis grades and NAFLD activity scores (odds ratio [OR], ≥1.4; 95% confidence interval [CI]: >1.0, ≤2.5; P ≤ 0.041), compared to WT, but not with either HC or RES iron.
|
22611049 |
2012 |
|
rs11591147
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R46L variant associated with a two-fold increase prevalence of hepatic steatosis and higher epicardial fat thickness.
|
28758421 |
2017 |
|
rs58542926
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty liver (P = 0.038; odds ratio [OR]: 1.37; 95% confidence interval [CI]: 1.02-1.84); nevertheless, conditioning on patatin-like phospholipase domain-containing 3 (PNPLA3)-rs738409 abolished this effect.
|
25302781 |
2015 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty liver (P = 0.038; odds ratio [OR]: 1.37; 95% confidence interval [CI]: 1.02-1.84); nevertheless, conditioning on patatin-like phospholipase domain-containing 3 (PNPLA3)-rs738409 abolished this effect.
|
25302781 |
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 |
|
rs1553403917
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
|
29079548 |
2018 |
|
rs267606959
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
|
20142534 |
2010 |
|
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 |
|
rs1800777
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A variant of the polymorphism rs1800777 of CETP gene is independently associated with the presence of steatosis and lobulillar inflammation in subjects with proven biopsy NAFLD.
|
30293065 |
2018 |
|
rs12979860
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Additionally the CC(rs12979860) genotype entailed more pronounced portal inflammation (p = 0.02) and steatosis (p = 0.03).
|
22253715 |
2012 |
|
rs58542926
|
|
|
0.100 |
GeneticVariation |
BEFREE |
After adjustment for age, gender, body mass index and homoeostasis model assessment score, steatosis severity was independently associated with IL28B rs12979860 (odds ratio [OR] 0.69, 95% confidence interval [CI] 0.55-0.86, P = 0.001) and PNPLA3 rs738409 (OR 1.84, 95% CI 1.46-2.83, P < 0.001), but not TM6SF2 rs58542926 (OR 1.48, 95% CI 0.82-2.69, P = 0.19).
|
26259026 |
2016 |
|
rs1800562
|
|
|
0.030 |
GeneticVariation |
BEFREE |
All other common HFE genotypes--including C282Y-H63D compound heterozygosity--are not associated with significant biochemical and clinical expression in the absence of comorbid factors (e.g., alcohol, diabetes or steatohepatitis).
|
19072401 |
2008 |
|
rs1799945
|
|
|
0.060 |
GeneticVariation |
BEFREE |
All other common HFE genotypes--including C282Y-H63D compound heterozygosity--are not associated with significant biochemical and clinical expression in the absence of comorbid factors (e.g., alcohol, diabetes or steatohepatitis).
|
19072401 |
2008 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although the PNPLA3 rs738409 G allele has been associated with the risk of steatosis in CHB patients, no association between this polymorphism and the risk of cirrhosis was seen.
|
29218813 |
2018 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Among 270 HBV-infected patients, concurrent fatty liver was found in 107 patients (39.6%) and was associated with metabolic risks, cirrhosis (P = 0.016) and PNPLA3 rs738409 CG/GG genotype (P = 0.002).
|
27547913 |
2017 |
|
rs1217691063
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Among polymorphisms, C677T, a thermolabile form, but not A1298C, thermostable, was associated with fatty liver and insulin resistance.
|
24488901 |
2014 |
|
rs397507444
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Among polymorphisms, C677T, a thermolabile form, but not A1298C, thermostable, was associated with fatty liver and insulin resistance.
|
24488901 |
2014 |
|
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 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
As PNPLA3 I148M is a strong and inherited determinant of liver fat without affecting insulin resistance and lipid levels, these data suggest that steatosis has a causal role in determining serum Fetuin-A levels.
|
24828988 |
2014 |