rs58542926, TM6SF2

N. diseases: 42
Disease: Alcoholic Liver Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.020 GeneticVariation BEFREE SNPs in genes linked to HCC (DEPDC5, GRIK1, KIF1B, STAT4, MICA, DLC1, DDX18) or to liver damage (PNPLA3-rs738409, TM6SF2-rs58542926) in GWAS were genotyped in discovery cohorts including 1,020 HCC, 2,021 controls with chronic liver disease and 2,484 healthy individuals and replication was performed in prospective cohorts of cirrhotic patients with alcoholic liver disease (ALD, n = 249) and hepatitis C (n = 268). 30289982 2019
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
0.020 GeneticVariation BEFREE The adiponutrin (PNPLA3) p.I148M and transmembrane 6 superfamily member 2 (TM6SF2) p.E167K variants represent major genetic risk factors for progressive liver injury in nonalcoholic fatty liver disease (NAFLD), alcoholic liver disease (ALD) and chronic viral hepatitis. 30161167 2018