Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE This study aimed to confirm the association of the transmembrane 6 superfamily member 2 (TM6SF2) E167K variant with non-alcoholic fatty liver disease (NAFLD) and the degree of steatosis, as well as the additive effect of body mass index (BMI) or the patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M and TM6SF2 E167K variants in NAFLD. 31054977

2020

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE PRO-C3 concentration appears to be linked to both fibrosis and steatosis and increased in carriers of the TM6SF2 rs58542926 risk allele. 30859582

2019

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, p.Ile148Met (rs738409) and p.Glu167Lys (rs58542926) on PNPLA3 and TM6SF2 gene, respectively, previously shown to be associated with nonalcoholic steatosis and fibrosis evolution. 28711549

2018

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, p.Ile148Met (rs738409) and p.Glu167Lys (rs58542926) on PNPLA3 and TM6SF2 gene, respectively, previously shown to be associated with nonalcoholic steatosis and fibrosis evolution. 28711549

2018

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE PNPLA3 rs738409, GCKR rs780094 and TM6SF2 rs58542926 variants were independent risk factors of hepatic steatosis and elevated ALT levels. 29314568

2018

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Metabolic effects of LYPLAL1 rs12137855-C were similar, but statistically less robust, to the effects of GCKR rs1260326-T. TM6SF2 rs58542926-T displayed opposite metabolic effects when compared with the fatty liver associations. 29648650

2018

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE In conclusion, the TM6SF2 E167K variant promotes the development of steatosis, fibrosis and cirrhosis in patients with chronic hepatitis C. Conversely, this variant reduces circulating atherogenic lipid fractions. 28839198

2017

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The associations between the rs738409 PNPLA3 gene polymorphism and steatosis and advanced fibrosis were tested under a recessive inheritance model using logistic regression analysis, including age, gender, BMI, ethnicity/color, HOMA-IR, alcohol intake, HCV genotype 3, and the rs58542926 TM6SF2 gene polymorphism as covariates. 29258449

2017

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Furthermore, the low-frequency E167K variant of TM6SF2 and rare mutations in APOB, which impair very low-density lipoproteins secretion, predispose to progressive fatty liver. 26409295

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Reduction of Caloric Intake Might Override the Prosteatotic Effects of the PNPLA3 p.I148M and TM6SF2 p.E167K Variants in Patients with Fatty Liver: Ultrasound-Based Prospective Study. 26745555

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The Glu167Lys (E167K) transmembrane 6 superfamily member 2 (TM6SF2) variant has been associated with liver steatosis, high alanine transaminase (ALT) levels and reduced plasma levels of liver-derived triglyceride-rich lipoproteins. 25893821

2016

dbSNP: rs58542926
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

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE The TM6SF2 E167K substitution promotes steatosis and lipid abnormalities in part by altering TM6SF2 and microsomal triglyceride transfer protein expression and differentially impacts CHC and chronic hepatitis B viral load, while effects on fibrosis are marginal.(Hepatology 2016;64:34-46). 26822232

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE In HIV/HCV coinfection the TM6SF2 E167K variant is an independent predictor of severe fibrosis, but appears to be independently associated with severe steatosis only for patients with a non-3 HCV genotype. 27784963

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Associations of the single nucleotide polymorphisms (SNP) PNPLA3 rs738409 and TM6SF2 rs58542926 with hepatic steatosis have recently been established. 26847197

2016

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE In 100 treated patients matched 1:1 for modality of recruitment, gender, presence of IFG or type 2 diabetes, PNPLA3 I148M risk alleles, TM6SF2 E167K variant, age, and BMI, statin use remained associated with protection from steatosis (OR 0.09, 95% C.I. 25980762

2015

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE This is the first demonstration that TM6SF2 E167K variant is an independent predictor of liver steatosis in chronic hepatitis C. 25581573

2015

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE TM6SF2 E167K variant impacts on steatosis severity and is associated with liver damage and fibrosis in patients with CHC. 25820484

2015

dbSNP: rs58542926
rs58542926
0.100 GeneticVariation BEFREE Carriers of the TM6SF2 E167K variant have fatty liver as a result of reduced secretion of very-low-density lipoproteins (VLDLs). 25251399

2015

dbSNP: rs58542926
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