Abstract
BackgroundGenetic factors affect the risk of non-alcoholic fatty liver disease (NAFLD) and colorectal adenoma (CRA) importantly. Transmembrane protein 6 superfamily member 2 (TM6SF2) rs58542926 is a significant genetic susceptibility site for NAFLD. The relationships of TM6SF2 rs58542926 with the risk of NAFLD and CRA in Chinese Han population were unclear. The aim of this study was to investigate the association of TM6SF2 rs58542926 with the risk of NAFLD and CRA, and the effect of CRA on TM6SF2 rs58542926 carried NAFLD patients.ResultsA total of 839 Chinese Han population were included in this retrospective study. TM6SF2 rs58542926 polymorphism was genotyped in B-type ultrasonography proven NAFLD patients with or without CRA, CRA patients and healthy controls, using polymerase chain reaction. Serum lipid profiles were determined using biochemical methods. Statistical analyses were performed using SPSS statistical software, version 16.0 for mac. There was a significant difference in the distribution of genotype and allele of TM6SF2 rs58542926 in NAFLD and NAFLD&CRA patients compared to controls. The CT + TT genotypes were tightly associated with the risk of NAFLD and NAFLD&CRA. TM6SF2 rs58542926 T allele promotes the abnormal regulation of lipids metabolism and liver injury in NAFLD patients and NAFLD&CRA patients. CRA aggravates the clinical performance of NAFLD in T allele carriers.ConclusionsWe demonstrated the significant association between TM6SF2 rs58542926 polymorphism and the risk of NAFLD and NAFLD&CRA in a Chinese Han population. The TM6SF2 rs58542926 T allele promotes the abnormal regulation of lipid profiles and liver injury in NAFLD patients, NAFLD&CRA patients, and overall subjects.
Highlights
Genetic factors affect the risk of non-alcoholic fatty liver disease (NAFLD) and colorectal adenoma (CRA) importantly
The traditional risk factors of NAFLD, such as body mass index (BMI), CAP, FPG, TG, Aspartate aminotransferase (AST), alanine transaminase (ALT), and uric acid (UA) were significant higher in the NAFLD group and NAFLD&CRA group compared to healthy control group
The Transmembrane protein 6 superfamily member 2 (TM6SF2) rs58542926 genotype distributions were significant different in NAFLD group, NAFLD&CRA group compared to healthy control group
Summary
Genetic factors affect the risk of non-alcoholic fatty liver disease (NAFLD) and colorectal adenoma (CRA) importantly. Transmembrane protein 6 superfamily member 2 (TM6SF2) rs58542926 is a significant genetic susceptibility site for NAFLD. The relationships of TM6SF2 rs58542926 with the risk of NAFLD and CRA in Chinese Han population were unclear. Genome wide association studies (GWAS) have been conducted to explore the significant SNP (single nucleotide polymorphism) sites in genome which were associated NAFLD and lipid metabolism. Several significant genetic susceptibility genes such as PNPLA3, KLF6, GCKR, LYPLAL1, had been proven the key roles in the development of NAFLD in different regions and ethnicities [5,6,7,8,9,10]. In 2014, the significance of TM6SF2 rs58542926 polymorphism in (2019) 20:3
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