杀伤细胞免疫球蛋白样受体基因多态性与原发性胆汁性肝硬化的相关性分析  

Correlation analysis between killer cell immunoglobulin-like receptor gene polymorphism and primary biliary cirrhosis

作　　者：郑立明[1] 许联红[2] 何梅芳[1] 史琼英[1] 李欣[1] 王永忠[1] 

机构地区：[1]常州市第三人民医院检验科,江苏常州213001 [2]江苏大学附属武进人民医院检验科,江苏常州213002

出　　处：《细胞与分子免疫学杂志》2015年第1期85-88,92,共5页Chinese Journal of Cellular and Molecular Immunology

基　　金：武进科技计划项目(WS2010012)

摘　　要：目的探讨江苏汉族人群杀伤细胞免疫球蛋白样受体(KIR)基因多态性与原发性胆汁性肝硬化(PBC)的相关性。方法收集2011-06-01/2013-07-31期间江苏省常州三院住院的PBC患者122例和198例相匹配的无血缘关系健康人群外周血标本。采用实时荧光定量PCR检测KIR基因多态性,分析KIR基因及基因型频率在2组人群间的差异。结果 PBC患者KIR2DL2和2DS2基因频率比对照组显著性降低,与降低疾病的患病风险有关。共检测出55种KIR基因型,其中PBC组24种,对照组47种。最常见的基因型为AA1,其次为BX2、BX8、BX4、BX14。对存在于5个或以上个体的11个基因型进行分析,未发现PBC组与对照组之间有显著性差异。结论 KIR2DL2和2DS2的缺失可能是江苏地区汉族人群PBC发病潜在的保护因子。Objective To explore the association between killer cell immunoglobulin-like receptor （KIR） gene polymorphism and primary biliary cirrhosis （PBC） in Jiangsu Han population. Me,otis Peripheral blood samples were taken from 122 patients with PBC hospitalized in third people＇s hospital of Changzhou in Jiangsu province between June 2011 and July 2013 and 198 randomly matched unrelated healthy donors. KIR was typed by SYBR Green I real-time PCR genotyping assay. Gene and genotype frequencies of KIR were compared between the two groups. Results The gene frequencies of KIR2DL2 and 2DS2 were significantly lower in the PBC group as compared with those of the control group. KIR2DL2 and 2DS2 were associated with lower risk of PBC. The total 55 KIR genotypes were found in the patients （24 genotypes） and the controls （47 genotypes）. The most commonly observed KIR genotype was AA1, and the next were BX2, BX8, BX4 and BX14. Only 11 genotypes were observed in five individuals or more, allowing for a meaningful comparison of genotype frequencies between the patients and controls. There was no statistically significant difference in genotype frequencies between the two groups. Conclusion The absence of KIR2DL2/2 DS2 genotype may be associated with protection against PBC in Jiangsu Hart population.

关 键 词：杀伤细胞免疫球蛋白样受体 基因多态性 基因型 原发性胆汁性肝硬化 

分 类 号：Q343.15[生物学—遗传学] R392.2[医药卫生—免疫学]