Genetic association of E26 transformation specific sequence 1 polymorphisms with the susceptibility of primary biliary cholangitis in China.

ABSTRACT: Primary biliary cholangitis (PBC) is a chronic and cholestatic liver disease characterized by an autoimmune-mediated destruction of intrahepatic bile ducts. E26 transformation specific sequence 1 (ETS-1) is a transcription factor regulating the expression of various immune-related genes. The aim of our study was to identify the associations between the gene polymorphisms of ETS-1 with the susceptibility and clinical characteristics of PBC in Chinese Han population. Three single nucleotide polymorphisms (rs4937333, rs11221332 and rs73013527) of ETS-1 were selected based on relevant studies. Genotyping was executed with polymerase chain reaction-high resolution melting (PCR-HRM) assay. SNP rs4937333 of ETS-1 was prominent correlation with the susceptibility of PBC (P?=?0.007, OR?=?1.44, 95%CI?=?1.10-1.88). For rs4937333, PBC patients carrying the allele T assumed high-level TP (P?=?0.020), and homozygous genotype TT assumed low-level RDW (P?=?0.033). For rs11221332, PBC patients carrying the allele T assumed high-level TP and HDLC (P?=?0.004, P?=?0.015, respectively). For rs73013527, PBC patients carrying the allele T assumed low-level PLT (P?=?0.002), and homozygous genotype TT assumed high-level RDW (P?=?0.021). In conclusion, Gene polymorphisms of ETS-1 present relevant with the susceptibility of PBC, and affect the expression of TP, HDLC, PLT and RDW concentrations in patients with PBC.

SUBMITTER: Xu H 

PROVIDER: S-EPMC6927954 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature