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.
Highlights
Primary biliary cholangitis (PBC) is a chronic, progressive and cholestatic autoimmune liver disease characterized by the highly disease-specific autoantibody that is antimitochondrial antibody (AMA) and the histological destruction of small and medium-sized intrahepatic bile ducts that probably brings about fibrosis and sometimes even cirrhosis[1]
Recessive model analysis showed that the frequency of TT genotype in PBC group was obviously increased (P = 0.003, odds ratio (OR) = 1.98, 95%confidence interval (CI) = 1.25–3.13), but the genotype frequency was no prominent difference in dominant model (P = 0.114, OR = 1.40, 95%CI = 0.92–2.11)
We have demonstrated gene polymorphisms of E26 transformation specific sequence-1 (ETS-1) present relevant with the susceptibility of PBC and allele T of rs4937333 plays the role of risk factor in occurrence of PBC and ETS-1 gene loci assume significant differences about the level of total protein (TP), high density lipoprotein cholesterol (HDLC), PLT and red blood cell distribution width (RDW) in patients with PBC in Chinese Han population
Summary
Primary biliary cholangitis (PBC) is a chronic, progressive and cholestatic autoimmune liver disease characterized by the highly disease-specific autoantibody that is antimitochondrial antibody (AMA) and the histological destruction of small and medium-sized intrahepatic bile ducts that probably brings about fibrosis and sometimes even cirrhosis[1]. As with other autoimmune diseases, several pathogenetic factors have been considered to potentially trigger the onset of PBC, including infections[5], environmental factors[6] and genetic susceptibility[7]. Pathological appearance of PBC is closely connected with peripheral blood cell subpopulations, especially T-regulatory (Treg) and T-helper 17 (Th17) lymphocytes, and both Treg and Th17 cells might play a crucial role in the pathogenesis and treatment of PBC11. T lymphocyte differentiation is related to the pathogenesis of PBC, and related to the regulatory mechanism of ETS-1. SNPs are single base-pair changes in the DNA sequence and may fall within the coding regions of genes, non-coding regions of genes, or in intergenic regions[14] In this aspect, association researches can determine whether a genetic variant is connected with PBC or not. To better understand the role of ETS-1 in PBC, we analyzed the potential correlations between the three SNPs of ETS-1 and the susceptibility and the clinical characteristics of PBC in the southwest of China
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