|
rs1800562
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The Cys282Tyr mutation is responsible for most of the mild iron overload found in NASH and thus has a significant association with hepatic damage in these patients.
|
9453491 |
1998 |
|
rs1800562
|
|
|
0.060 |
GeneticVariation |
BEFREE |
One subject (2.8%) with NASH was homozygous for the C282Y mutation and six (16.7%) were heterozygous, compared with 0%, and 11.2%, respectively, of controls.
|
10488699 |
1999 |
|
rs1799945
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Sex (63-67% male) and age at diagnosis of NASH did not differ between those with or without HFE mutations, but men with NASH were significantly more likely than women to have the H63D mutation (15/23 vs. 3/13, p<0.05) Levels of serum ferritin, iron, transferrin saturation levels, and the degree of hepatic iron staining were significantly higher (p<0.05) in subjects with NASH who carried an HFE mutation than in those without.
|
10488699 |
1999 |
|
rs1800562
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The frequency of C282Y heterozygosity was increased in Anglo-Celtic patients with NASH compared with ethnic blood donor controls (22% vs. 9.2%; P =.035); there were no C282Y homozygotes in the NASH cohort.
|
12085358 |
2002 |
|
rs1799945
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The frequencies of compound C282Y/H63D heterozygotes (n = 1) or H63D heterozygotes (n = 10) were not increased in NASH.
|
12085358 |
2002 |
|
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 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
According to this study, the MTHFR C677T mutation does not seem to be a risk factor for the progression of NAFL to NASH.
|
17356914 |
2007 |
|
rs7946
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH.
|
17391797 |
2007 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To examine whether the C677T and A1298C polymorphisms of the MTHFR gene were associated with NASH, we analysed the allele and genotype distribution of the MTHFR C677T and A1298C polymorphisms in 57 well-diagnosed NASH patients, 324 healthy controls in a case-control study of Turkish subjects of Caucasian origin.
|
17563923 |
2008 |
|
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The MTHFR A1298C polymorphism was significantly associated with NASH (chi(2) = 8.439; p = 0.015) in the total NASH patients compared with healthy controls.
|
17563923 |
2008 |
|
rs1799945
|
|
|
0.050 |
GeneticVariation |
BEFREE |
One patient with NASH</span> and one normal individual who were homozygous for H63D showed no iron overload.
|
17589946 |
2007 |
|
rs1800562
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The HFE C282Y heterozygous mutation is associated with advanced fibrosis among Caucasians with NASH.
|
17680648 |
2007 |
|
rs1800562
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In assessing the C282Y HFE gene mutation alone, the percentage of heterozygosis for C282Y was not different in subjects with NASH compared with controls.
|
17916170 |
2008 |
|
rs1799945
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We have not found a significantly increased prevalence of the mutation H63D in the HFE gene in our patients with NASH.
|
17916170 |
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 |
|
rs17107315
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One subject with diffuse fatty liver disease and other with liver cirrhosis due to NAFLD had N34S mutation.
|
19502653 |
2009 |
|
rs7643645
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, in univariate analysis rs7643645/G was significantly associated with fatty liver disease (P<0.04), with an odds ratio of 1.457 (95% confidence interval: 1.018-2.086).
|
19940802 |
2010 |
|
rs738409
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Interestingly, the rs738</span>409 G allele was strongly associated with the severity of steatosis (P < 0.0001), the presence of NASH (P < 0.0001), hepatocellular ballooning (P < 0.0001), lobular inflammation (P < 0.0001), and the presence of fibrosis (P = 0.01) independently of confounders.
|
20648474 |
2010 |
|
rs738409
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The adiponutrin/PNPLA3 (patatin-like phospholipase domain-containing protein 3) variant I148M has recently emerged as an important marker of human fatty liver disease.
|
21145868 |
2011 |
|
rs738409
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Overall, the rs738409 G allele is associated with severity of NASH and occurrence of fibrosis in patients with NAFLD.
|
22258181 |
2012 |
|
rs12447924
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In females, two SNPs in linkage disequilibrium from the CETP gene were associated with FLD: rs12447924 (OR 2.16, 95%CI 1.42-3.32, P=0.0003) and rs12597002 (OR=2.22, 95%CI 1.46-3.41 P=0.0002).
|
22414273 |
2012 |
|
rs12597002
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In females, two SNPs in linkage disequilibrium from the CETP gene were associated with FLD: rs12447924 (OR 2.16, 95%CI 1.42-3.32, P=0.0003) and rs12597002 (OR=2.22, 95%CI 1.46-3.41 P=0.0002).
|
22414273 |
2012 |
|
rs738409
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Several recent genome-wide association studies have reported an association between single-nucleotide polymorphism rs738409 in the (patatin-like phospholipase domain-containing protein 3) PNPLA3 gene and FLD.
|
22546774 |
2013 |
|
rs738409
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Numerous studies in humans link a nonsynonymous genetic polymorphism (I148M) in adiponutrin (ADPN) to various forms of fatty liver disease and liver cirrhosis.
|
22560221 |
2012 |
|
rs1800562
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Single-nucleotide polymorphism genotyping for C282Y (rs1800562) and H63D (rs1799945) HFE mutations was performed in 786 adult subjects in the NASH Clinical Research Network (CRN).
|
22611049 |
2012 |