自身免疫性肝病患者SH2B3基因Rs3184504单核苷酸多态性分析  

Single nucleotide polymorphism of Rs3184504 in SH2B3 gene in patients with autoimmune liver disease

作　　者：陈大同 岳展伊 张小蓬 Chen Datong;Yue Zhanyi;Zhang Xiaopeng(Clinical Laboratory,People's Hospital,Haimen District,Nantong 226100,Jiangsu Province,China)

机构地区：[1]江苏省南通市海门区人民医院检验科,226100 [2]海军军医大学附属长海医院检验科

出　　处：《实用肝脏病杂志》2024年第6期856-859,共4页Journal of Practical Hepatology

基　　金：江苏省卫生健康委员会科研项目(编号:BS20220201)。

摘　　要：目的探讨自身免疫性肝病(AILD)患者SH2B衔接蛋白3(SH2B3)基因中Rs3184504单核苷酸多态性(SNP)变化。方法2017年6月~2023年10月我院收治的58例自身免疫性肝炎(AIH)、62例原发性胆汁性胆管炎(PBC)患者和同期体检的60例健康人,采用PCR法检测SH2B3基因中Rs3184504位点多态性。应用Logistic回归分析SH2B3基因Rs3184504单核苷酸多态性与AIH或PBC的患病风险度。结果AIH组SH2B3基因Rs3184504位点中TT基因型和等位基因T占比分别为53.4%和66.4%,PBC组分别为54.8%和69.4%,均显著高于健康人(分别为16.7%和26.7%,P<0.05),而AIH组和PBC组SH2B3基因Rs3184504位点中CC基因型分别为20.7%和16.1%,均显著低于健康人的63.3%(P<0.05);Logistic回归分析显示,相对于SH2B3基因Rs3184504位点中CC基因型携带者,TT基因型携带者AIH患病风险提高了2.529倍(OR=2.529,P<0.05),相对于SH2B3基因Rs3184504位点中CC基因型携带者,CT基因型携带者PBC患病风险提高了2.812倍(OR=2.812,P<0.05),TT基因型携带者PBC患病风险提高了2.370倍(OR=2.370,P<0.05)。结论AILD与SH2B3基因中Rs3184504单核苷酸多态性变化有关,其中TT基因是AIH易感基因型,CT和TT基因型是PBC易感基因型,携带T等位基因的患者发生AILD的风险增加。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.

关 键 词：自身免疫性肝病 自身免疫性肝炎 原发性胆汁性胆管炎 SH2B衔接蛋白3基因 Rs3184504位点 单核苷酸多态性 遗传易感性 

分 类 号：R575[医药卫生—消化系统]