Abstract: Objective The aim of this study was to explore implication of single nucleotide polymorphism (SNP) of Rs3184504 loci in SH2B adaptor protein 3 (SH2B3) gene in patients with autoimmune liver diseases (AILD). Methods 58 patients with autoimmune hepatitis (AIH), 62 patients with primary biliary cholangitis (PBC) and 60 healthy persons were recruited in our hospital between June 2017 and October 2023, and SNP of blood SH2B3 gene at Rs3184504 locus were detected by PCR. The correlation between Rs3184504 SNP of SH2B3 gene and morbidity risk of AILD was analyzed by Logistic regression analysis. Results Proportions of TT genotype and allele T of SH2B3 gene at Rs3184504 locus in patients with AIH were 53.4% and 66.4%, and they were 54.8% and 69.4% in patients with PBC, all significantly higher than 16.7% and 26.7% (P＜0.05), while proportions of CC genotype of SH2B3 gene at Rs3184504 locus in patients with AIH and PBC were 20.7% and 16.1%, both significantly lower than 63.3%(P＜0.05) in healthy individuals; Logistic regression analysis showed morbidity risk of AIH significantly increased 2.529 times (OR=2.529, P<0.05) in patients with TT genotype of SH2B3 gene Rs3184504 locus, relatively compared to those carrying CC genotype, and morbidity risk of PBC increased 2.812 times(OR=2.812, P＜0.05) in patients with CT genotype of SH2B3 gene Rs3184504 locus and it increased 2.370 times(OR=2.370, P＜0.05) in patients with TT genotype, relatively compared to those carrying CC genotype. Conclusion Morbidity risk of AILD is related to SNP changes of SH2B3 gene at Rs3184504 locus, TT is susceptibility genotype of AIH, CT and TT are susceptible genotypes of PBC and risk of AILD is higher in individuals with T allele.

Key words: Autoimmune liver diseases, Autoimmune hepatitis, Primary biliary cholangitis, SH2B adaptor protein 3 gene, Rs3184504 locus, Single nucleotide polymorphism, Genetic susceptibility