杀伤细胞免疫球蛋白样受体基因多态性与强直性脊柱炎的关联性

目的：探讨杀伤细胞免疫球蛋白样受体（killer cell immunogloblin like receptors，KIRs）基因多态性与强直性脊柱炎(ankylosing spondylitis，AS)的关联性。方法：采用序列特异性引物聚合酶链反应（PCR SSP）法，分析86例AS患者和412例无血缘关系的正常人中迄今发现的14个KIR基因和假基因KIRZ的基因频率、基因型和单倍型。结果：AS患者组活化型KIR3DS1、抑制型KIR2DL2和KIR2DL5的基因频率较对照组显著升高（P＜0.05）；携带2个或2个以上活化型KIR基因的AS患者明显高于对照人群；其余各KIR的基因频率差异无统计学意义（P＞0.05）。结论：活化性/抑制性杀伤细胞免疫球蛋白样受体基因的失衡可能与AS的发生相关。

Association between polymorphisms of killer cell immunogloblin-like receptor gene and ankylosing spondylitis

Objective: To investigate whether the polymorphisms of killer cell immunoglublin-like receptor(KIR) gene has relation with the ankylosing spondylitis(AS).Methods: Polymerase chain reaction-sequence-specific primers(PCR-SSP) method was employed for genotyping KIRs from genomic DNA of 86 AS patients and 412 healthy donors.Results: Gene frequencies of KIR3DS1(P=0.044),KIR2DL2(P=0) and KIR2DL5(P=0.01)were statistically significant higher in the patient group than in the control group.Moreover,the percentage of patients carrying two or more activating KIRs was higher than that of controls.The frequencies of the other KIR loci subjected to assay in this work showed no significant difference in patients and controls.Conclusion: The data from this study suggest that the imbalance of KIR genes may have an association with a genetic predisposition to ankylosing spondylitis.