{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["6"],"submitter":["Sookoian S"],"pubmed_abstract":["A nonsynonymous E167K (rs58542926 C/T) variant in TM6SF2 gene was recently associated with nonalcoholic fatty liver disease (NAFLD). We explored the association between E167K and plasma concentrations of alanine (ALT) and aspartate (AST) aminotransferases through a meta-analysis. We also estimated the strength of the effect across diverse liver phenotypes, including NAFLD and chronic viral hepatitis; fourteen studies were included. We found that ALT (p?=?3.2?×?10(-6), n?=?94,414) and AST (p?=?0007, n?=?93,809) levels were significantly associated with rs58542926 in NAFLD. By contrast, rs58542926 was not associated with either ALT (p?=?0.24, n?=?4187) or AST (p?=?0.17, n?=?2678) levels in four studies on chronic hepatitis. In conclusion, the results of the pooled estimates in patients with NAFLD showed that carriers of the T allele (EK?+?KK), when compared with homozygous subjects for the C allele (EE genotype) have increased levels of aminotransferases; however, this increase represents -2.5 (9.8%) and 1.2 (5%) IU/L of ALT and AST respectively, which is fairly small compared with the large effect of PNPLA3- rs738409-G allele that is associated with a -28% increase in serum ALT."],"journal":["Scientific reports"],"pagination":["27718"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4899730"],"repository":["biostudies-literature"],"pubmed_title":["Meta-analysis of the influence of TM6SF2 E167K variant on Plasma Concentration of Aminotransferases across different Populations and Diverse Liver Phenotypes."],"pmcid":["PMC4899730"],"pubmed_authors":["Pirola CJ","Sookoian S"],"additional_accession":[]},"is_claimable":false,"name":"Meta-analysis of the influence of TM6SF2 E167K variant on Plasma Concentration of Aminotransferases across different Populations and Diverse Liver Phenotypes.","description":"A nonsynonymous E167K (rs58542926 C/T) variant in TM6SF2 gene was recently associated with nonalcoholic fatty liver disease (NAFLD). We explored the association between E167K and plasma concentrations of alanine (ALT) and aspartate (AST) aminotransferases through a meta-analysis. We also estimated the strength of the effect across diverse liver phenotypes, including NAFLD and chronic viral hepatitis; fourteen studies were included. We found that ALT (p?=?3.2?×?10(-6), n?=?94,414) and AST (p?=?0007, n?=?93,809) levels were significantly associated with rs58542926 in NAFLD. By contrast, rs58542926 was not associated with either ALT (p?=?0.24, n?=?4187) or AST (p?=?0.17, n?=?2678) levels in four studies on chronic hepatitis. In conclusion, the results of the pooled estimates in patients with NAFLD showed that carriers of the T allele (EK?+?KK), when compared with homozygous subjects for the C allele (EE genotype) have increased levels of aminotransferases; however, this increase represents -2.5 (9.8%) and 1.2 (5%) IU/L of ALT and AST respectively, which is fairly small compared with the large effect of PNPLA3- rs738409-G allele that is associated with a -28% increase in serum ALT.","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jun","modification":"2021-02-19T08:11:38Z","creation":"2019-03-27T02:15:40Z"},"accession":"S-EPMC4899730","cross_references":{"pubmed":["27278285"],"doi":["10.1038/srep27718"]}}