|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
NAFLD was strongly associated with three genetic variants, TM6SF2 rs58542926, PNPLA3 rs738409 and GCKR rs1260326, and more slightly with ELOVL2 rs2236212, in obese children and adolescents.
|
31255630 |
2019 |
|
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 |
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 |
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 |
Among individual variants, rs1260326 in GCKR and rs641738 in MBOAT7 (recessive), rs58542926 in TM6SF2 and rs738409 in PNPLA3 (dominant) emerged as associated to NAFLD, with PNPLA3 rs738409 being the strongest predictor (OR 3.12, 95% CI, 1.8-5.5, P < 0.001).
|
29487372 |
2018 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
An I148 M variant in patatin-like phospholipase domain-containing protein 3 (PNPLA3) and an E167K variant in transmembrane 6 superfamily 2 (TM6SF2) are major genetic risk factors for the development and progression of NAFLD.
|
30550414 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
As variants in PNPLA3 (I148M) and TM6SF2 (E167K) are associated with nonalcoholic fatty liver disease, we assessed these variants in type 2 diabetes (T2D) patients randomized to receive BIL (n=1822) or GL (n=1270) in three phase 3 trials.
|
29160303 |
2018 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because PNPLA3 rs738409, GCKR rs780094 and TM6SF2 rs58542926 variants are known to confer susceptibility to NAFLD, we assessed the influence of MBOAT7 rs641738 on hepatic steatosis, and serum levels of CK-18 fragment (a biomarker of hepatocellular injury and apoptosis for NAFLD) after adjusting the effects of PNPLA3, GCKR and TM6SF2 polymorphisms.
|
29314568 |
2018 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
CC genotype of TM6SF2 rs58542926 was associated with a significantly lower risk of NAFLD, while MBOAT7 rs641738 was not related to NAFLD risks.
|
30824369 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Combined effects of the PNPLA3 rs738409, TM6SF2 rs58542926, and MBOAT7 rs641738 variants on NAFLD severity: a multicenter biopsy-based study.
|
27836992 |
2017 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Combining the I148M and E167K variants in a manner of an additive effect could improve risk prediction for NAFLD in a Qingdao Han Population cohort.
|
30738435 |
2019 |
|
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 |
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 |
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 |
Here we show that adiposity significantly amplifies the effect of three sequence variants (encoding PNPLA3 p.I148M, TM6SF2 p.E167K, and GCKR p.P446L) associated with nonalcoholic fatty liver disease (NAFLD).
|
28436986 |
2017 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here, we accessed the seven polymorphisms of rs1260326, rs780094 in GCKR, rs2954021 near TRIB1, rs2228603 in NCAN, rs58542926 in TM6SF2, rs12137855 near LYPLAL1, and rs10883437 near CPN1 on NAFLD susceptibility in the Uygur population.
|
30646922 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, it was found that a one-portion increase in fish intake increased the risk of NAFLD in carriers of the risk allele of TM6SF2 rs58542926 polymorphism compared to non-carriers, after adjusting for age, gender, energy intake, pack-years, PAL, TM6SF2 genotype and fish consumption (OR<sub>dominant</sub> = 1.503, 95% CI 1.094-2.064).
|
29574608 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Impaired hepatic lipid synthesis from polyunsaturated fatty acids in TM6SF2 E167K variant carriers with NAFLD.
|
28235613 |
2017 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Importantly, our data indicates that the genetic variant TM6SF2 E167K, previously associated with increased risk for NAFLD, induces increased hepatocyte fat content by reducing APOB particle secretion.
|
31406127 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Interestingly, patients harbouring the TM6SF2 rs58542926 T allele that predispose to NAFLD/NASH had higher LBP level.
|
28464257 |
2017 |
|
Non-alcoholic Fatty Liver Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Metabolic syndrome (MetS) and genetic polymorphisms PNPLA3 rs738409, TM6SF2 rs585</span>42926 and MBOAT7 rs641738 are known inductors of non-alcoholic fatty liver disease (NAFLD).
|
31851849 |
2019 |
|
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 |
The rs58542926 SNP in the TM6SF2 gene is associated with pediatric nonalcoholic fatty liver disease but may confer protection against cardiovascular risk.
|
26457389 |
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 |
The rs58542926 polymorphism in TM6SF2 (transmembrane 6 superfamily member 2) is a genetic factor predisposing to nonalcoholic fatty liver disease.
|
31356578 |
2020 |