关键词: 原发性胆汁性肝硬化, 丝氨酸蛋白酶抑制剂A1, 基因多态性, 罹患风险

Abstract: Objective The aim of this study was to explore peripheral blood serine protease inhibitor A1 (SERPINA1) gene polymorphism in patients with primary biliary cirrhosis (PBC). Methods 60 patients with PBC and 60 healthy persons for physical examination were recruited in our hospital between March 2018 and March 2020. The gene sequencing method was applied to detect the genotype of the rs28929474 locus of the SERPINA1 gene, and the chi-square test and the Hardy-Weinberg balance test were applied to test the genotype and allele distribution differences of the rs28929474 locus of the SERPINA1 gene between the two groups. Results The genotype distribution at the rs28929474 locus of the SERPINA1 gene in the two groups conformed to the Hardy-Weinberg equilibrium (P>0.05), which suggested the representative of the population; the frequencies of AA genotype and A allele in patients with PBC were 37.1% and 46.8%, both significantly higher than 11.7 % and 27.5 %(P>0.05), while the frequencies of GG, GA genotype and G allele were 43.5%, 19.4%, and 53.2%, all significantly lower than 56.7%, 31.7 % and 72.5 % (P>0.05) in the healthy persons, suggesting that A allelemight be a protective factor for, while G allele might be a risk factor for individuals prone to PBC; the Child score and MELD score in PBC patients with GA/AA were (7.9±1.8) and (19.2±2.4 ), significantly higher than (6.8±1.6) and (15.7±2.1) in PBC patients with GG (P>0.05) ; there was no significant difference respect to serum ANA and AMA-M2 positive rates between the two groups (P>0.05). Conclusion The susceptibility of PBC among the residents in this area might be related to the rs28929474 polymorphism of the SERPINA1 gene, the A gene might be a protective, while the G gene might be a risk gene, and monitoring peripheral blood SERPINA1 gene rs28929474 polymorphism could predict the occurrence of PBC.

Key words: Primary biliary cirrhosis, Serine protease inhibitor A1, Gene polymorphism, Susceptibility