rs58542926, TM6SF2

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
0.720 GeneticVariation BEFREE The development of HCC was independently associated with PNPLA3 rs738409 (OR<sub>adjusted</sub> 1.84 [95% CI 1.55-2.18], p = 1.85 × 10<sup>-12</sup>) and TM6SF2 rs58542926 (OR<sub>adjusted</sub> 1.66 [1.30-2.13], p = 5.13 × 10<sup>-05</sup>), using an additive model, and controlling the sex, age, body mass index, and type 2 diabetes mellitus; the risk associated with carriage of MBOAT7 rs641738 (OR<sub>adjusted</sub> 1.04 [0.88-1.24], p = 0.61) was not significant. 29535416 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.720 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
Diabetes Mellitus, Non-Insulin-Dependent
0.720 GeneticVariation GWASCAT Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. 29632382 2018
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. 30670697 2019
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.700 GeneticVariation GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943 2015
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943 2015
Vitamin measurement
CUI: C0428580
Disease: Vitamin measurement
0.700 GeneticVariation GWASCAT Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. 23696881 2013
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.100 GeneticVariation BEFREE The TM6SF2 E167K variant was associated with NAFLD in northeast China, and there was an interaction between the PNPLA3 I148M and TMS6F2 E167K variants in NAFLD. 31054977 2020
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
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
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: 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
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: 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
CUI: C0400966
Disease: 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
CUI: C0400966
Disease: 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
CUI: C0400966
Disease: 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
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
0.100 GeneticVariation BEFREE The TM6SF2 rs58542926 T allele promotes the abnormal regulation of lipid profiles and liver injury in NA</span>FLD patients, NAFLD&CRA patients, and overall subjects. 30727943 2019
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: 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
CUI: C0400966
Disease: 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
CUI: C0400966
Disease: 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
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
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