|
rs1014959895
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1251713297
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1554888939
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs886041065
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1800562
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The presence of the Cys282Tyr mutation was tested in all patients, and the data were analyzed with respect to the histological grade of steatosis, inflammation, Perls' staining, hepatic iron concentration (HIC), and serum iron indices.
|
9453491 |
1998 |
|
rs1042714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Univariate analysis indicated that subjects with the heterozygous Gln27Glu mutant alleles had a significantly higher prevalence of fatty liver vs. those without the mutation (Glu27 allele frequency, 0.07 vs. 0.12, p=0.047; odds ratio, 1.92; 95% confidence interval, 1.01-3.68).
|
11718682 |
2001 |
|
rs1217691063
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In conclusion, a genetic background such as the MTHFR C677T polymorphism responsible for hyperhomocysteinemia plays a role in the development of higher degree of steatosis, which in turn accelerates the progression of liver fibrosis in CHC.
|
15834927 |
2005 |
|
rs1800206
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neither NASH nor genotype 1 HCV-related liver steatosis seems to be associated with the PPARalpha L162V polymorphism.
|
16297361 |
2005 |
|
rs1799945
|
|
|
0.060 |
GeneticVariation |
BEFREE |
C282Y/H63D subjects referred for assessment had a high prevalence of increased iron indices but did not develop progressive clinical disease without comorbid factors such as steatosis, diabetes, or excess alcohol consumption.
|
16979952 |
2006 |
|
rs1799945
|
|
|
0.060 |
GeneticVariation |
BEFREE |
These data confirm the association between fatty liver, hyperferritinaemia and increased hepatic iron, but do not clarify whether siderosis was related to steatosis rather than homozygosity for the H63D mutation.
|
16586555 |
2006 |
|
rs1217691063
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We aimed to assess the possible role of the MTHFR C677T mutation in the progression of simple steatosis to an advanced form of NAFLD.
|
17356914 |
2007 |
|
rs1217691063
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The MTHFR C677T polymorphism may play a role in influencing liver fibrosis progression in patients with recurrent hepatitis C, in conjunction with donor age, but not via steatosis promotion.
|
17900242 |
2008 |
|
rs1799945
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The HFE gene heterozygosis H63D: a cofactor for liver damage in patients with steatohepatitis? Epidemiological and clinical considerations.
|
17916170 |
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 |
|
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 |
|
rs2290602
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of the T allele of rs2290602 was significantly higher in the NASH patients than in the control subjects (p = 0.00093, allele frequency mode), and its frequency in the NASH patients tended to be higher than in the simple steatosis patients (p = 0.09).
|
18588668 |
2008 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
G allele carriers of the SNP rs738409 had higher liver fat (P < 0.0001) and an odds ratio of 2.38 (95% CI 1.37-4.20) for having fatty liver compared to C allele homozygotes.
|
19651814 |
2009 |
|
rs1799945
|
|
|
0.060 |
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 |
|
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 |
|
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 |
In patients with NAFLD, adiponutrin rs738409 C-->G genotype, encoding for I148M, is associated with the severity of steatosis and fibrosis and the presence of nonalcoholic steatohepatitis.
|
20373368 |
2010 |
|
rs738409
|
|
|
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 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this large cohort of histologically proven NAFLD, we confirm the association of the rs738409 G allele with steatosis and describe its association with histological severity.
|
20684021 |
2010 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The steatosis grade was not associated with rs738409.
|
21176169 |
2010 |
|
rs738409
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In a case only analysis of G allele of rs738409 in PNPLA3 was associated with a decreased risk of zone 3 centered steatosis (OR = 0.46, 95% CI = 0.36-0.58; P = 5.15 x 10(-11)).
|
20648472 |
2010 |