Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE Studies have shown that two polymorphisms were associated with steatosis and progression of non-alcoholic fatty liver disease (NAFLD) in different populations: the Patatin-like Phospholipase Domain Containing 3 (PNPLA3) and Transmembrane 6 Superfamily Member 2 (TM6SF2). 31054980 2020
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE The presence of the TM6SF2 c.499A allele in the donor (p=0.014), the PNPLA3 c.444G allele in the donor (p<0.001), posttransplant BMI (p<0.001) and serum triglycerides (p=0.047) independently predicted increased liver fat content on multivariable analysis whereas noncirrhotic liver disease as an indication for liver transplantation was associated with lower risk of steatosis (p=0.003). 31356578 2020
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE In particular, the TM6SF2 genotype was also associated with the degree of steatosis (P=0.023). 31054977 2020
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE We assessed the familial correlation of PRO-C3 concentration, the shared gene effects between PRO-C3 concentration and liver steatosis and fibrosis, and the association between PRO-C3 concentration and genetic variants in the patatin-like phospholipase domain-containing 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2), membrane-bound O-acyltransferase domain-containing (MBOAT), and glucokinase regulator (CGKR) genes. 30859582 2019
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE PNPLA3 rs738409, GCKR rs780094 and TM6SF2 rs58542926 variants were independent risk factors of hepatic steatosis and elevated ALT levels. 29314568 2018
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease 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
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, rs738409" genes_norm="80339">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
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease 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
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE The TM6SF2 genotype was associated with steatosis (P = 0.003) but not with fibrosis (P > 0.05). 27836992 2017
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease 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
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE Associations of the single nucleotide polymorphisms (SNP) PNPLA3 rs738409 and TM6SF2 rs58542926 with hepatic steatosis have recently been established. 26847197 2016
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease 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
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE The association of TM6SF2 E167K with severe steatosis, absent for the whole group of 167 patients, was re-evaluated separately for HCV-genotype 3 and non-3 patients: No factor was independently associated with severe steatosis in the HCV-genotype-3 subgroup, whereas an independent association was observed between severe steatosis and TM6SF2 E167K in non-3 HCV genotypes. 27784963 2016
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease 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
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease 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
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease 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
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE Variants of TM6SF2 (30.9% vs. 25%, P = 0.40), IL28B and PNPLA3 were not directly associated with fibrosis severity, although variants of IL28B and PNPLA3 promoted steatosis (OR 1.36, 95% CI 1.06-1.75, P = 0.01) that in turn is associated with severe fibrosis. 26259026 2016
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 Biomarker disease BEFREE Neither variant TM6SF2 nor MBOAT7 increased hepatic steatosis (all P>.05); however, the MBOAT7 polymorphism was associated with increased triglyceride, total cholesterol, low density lipoprotein, and serum glucose levels (all P<.05). 27576208 2016
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE This is the first demonstration that TM6SF2 E167K variant is an independent predictor of liver steatosis in chronic hepatitis C. 25581573 2015
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE The transmembrane 6 superfamily member 2 (TM6SF2) gene E167K variant increases liver fat and risk of progressive steatohepatitis by interfering with lipoprotein secretion. 25820484 2015
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease 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
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 Biomarker disease BEFREE Translation of candidates from these studies into ALD has established a role for variants in genes including PNPLA3 and potentially TM6SF2 across the disease spectrum from steatosis, through cirrhosis to hepatocellular carcinoma. 26676812 2015
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 GeneticVariation disease BEFREE Carriers of the TM6SF2 E167K variant have fatty liver as a result of reduced secretion of very-low-density lipoproteins (VLDLs). 25251399 2015
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
0.100 Biomarker disease BEFREE Recent advances include the identification of PNPLA3 as a modifier of disease outcome across the full spectrum of NAFLD from steatosis to advanced fibrosis and hepatocellular carcinoma; and the discovery of TM6SF2 as a potential "master regulator" of metabolic syndrome outcome, determining not only risk of advanced liver disease, but also cardiovascular disease outcomes. 26378644 2015