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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 investigate the association between killer cell immunoglobulin-like receptor (KIR) gene polymorphism and primary biliary cirrhosis (PBC) in Jiangsu Han population. Methods Peripheral blood samples were collected from 122 matched PBC patients and 198 matched healthy unrelated healthy individuals in Changzhou Hospital of Changzhou from 2011-06-01 / 2013-07-31. The real-time fluorescent quantitative PCR was used to detect the polymorphism of KIR gene, and the difference of KIR gene and genotype frequencies between the two groups was analyzed. Results The frequencies of KIR2DL2 and 2DS2 genes in PBC patients were significantly lower than those in control subjects, which were associated with the decreased risk of disease. A total of 55 KIR genotypes were detected, including 24 in the PBC group and 47 in the control group. The most common genotype was AA1, followed by BX2, BX8, BX4, BX14. 11 genotypes present in 5 or more individuals were analyzed and no significant difference was found between the PBC group and the control group. Conclusion The deletion of KIR2DL2 and 2DS2 may be potential protective factors for the onset of PBC in Han nationality in Jiangsu province.