|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The PNPLA3 mutation as well as the novel NAFLD-predisposing genetic variant (TM6SF2 p.E167K) were genotyped with allele-specific probes.
|
26264356 |
2016 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study confirmed the genetic association of missense SNP of TM6SF2, rs58542926, with plasma lipid levels in multiple East Asian ethnic groups and with NAFLD in Japanese individuals.
|
26758378 |
2016 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent risk factors for non-alcoholic fatty liver disease (NAFLD).
|
26745555 |
2016 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
TM6SF2 rs58542926 is clearly associated with NAFLD, but it is not clearly associated with HCC.
|
26493626 |
2016 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The rs58542926 T allele had no effect on inflammation, impacted ≥F2 fibrosis in CHC and NAFLD assessed cross-sectionally (odds ratio = 1.39, 95% confidence interval 1.04-1.87, and odds ratio = 1.62, 95% confidence interval 1.03-2.52, respectively; P < 0.03 for both), but had no effect on fibrosis progression in 1174 patients with CHC and a known duration of infection.
|
26822232 |
2016 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although the TMS6SF2 E167K variant predisposes the obese children to non-alcoholic fatty liver disease, there is an association between this variant and lower levels of cardiovascular risk factors.
|
25893821 |
2016 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We found that ALT (p = 3.2 × 10(-6), n = 94,414) and AST (p = 0007, n = 93,809) levels were significantly associated with rs58542926 in NAFLD.
|
27278285 |
2016 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
rs58542926 is a low-frequency variant with a modest effect on NAFLD, suggesting that carriers of the T allele are slightly more likely to accumulate fat in the liver and develop nonalcoholic steatohepatitis than those without.
|
25302781 |
2015 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genomic studies confirmed that PNPLA3 I148M and TM6SF2 E167K polymorphisms affected NAFLD susceptibility in the general population.
|
26379412 |
2015 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A common non-synonymous polymorphism, E167K, in transmembrane six superfamily member 2 (TM6SF2) gene has been recently associated with an increased hepatic triglyceride content, dyslipidemia and liver fibrosis in NAFLD patients.
|
25581573 |
2015 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
More recently, the transmembrane 6 superfamily member 2 E167K variant emerged as a relevant contributor in both NAFLD pathogenesis and cardiovascular outcomes.
|
26494964 |
2015 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We conclude that the E167K variant in TM6SF2 is associated with a distinct subtype of NAFLD, characterized by preserved insulin sensitivity with regard to lipolysis, hepatic glucose production and lack of hypertriglyceridemia despite a clearly increased LFAT content.
|
25457209 |
2015 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The dual and opposite role of the TM6SF2-rs58542926 variant in protecting against cardiovascular disease and conferring risk for nonalcoholic fatty liver: A meta-analysis.
|
26331730 |
2015 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genetic variation in both patatin-like phospholipase domain-containing protein-3 (PNPLA3) (I148M) and the transmembrane 6 superfamily member 2 protein (TM6SF2) (E167K) influences severity of liver disease, and serum triglyceride concentrations in non-alcoholic fatty liver disease (NAFLD), but whether either genotype influences the responses to treatments is uncertain.
|
26272871 |
2015 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The TM6SF2 E167K variant was genotyped by TaqMan assays, steatosis graded according to the nonalcoholic fatty liver disease activity score, and necroinflammation and fibrosis graded and staged according to Ishak in Italian, and to Metavir in Swiss/German patients.
|
25820484 |
2015 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M or TM6SF2 E167K genetic determinants of NAFLD.
|
25763607 |
2015 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease.
|
24978903 |
2014 |