杀伤细胞免疫球蛋白样受体及HLA-Cw基因多态性与强直性脊柱炎遗传易感性研究  

Gene polymorphism of killer cell immunoglobulin-like receptors and HLA-Cw in patients with ankylosing spondylitis

作　　者：张炳昌[1] 卢志明[1] 刘芸[1] 焦玉莲[2] 赵跃然[2] 李建峰[2] 

机构地区：[1]山东大学附属省立医院检验科,济南250021 [2]山东大学附属省立医院科研中心,济南250021

出　　处：《中华检验医学杂志》2008年第10期1114-1118,共5页Chinese Journal of Laboratory Medicine

基　　金：国家自然科学基金资助项目（30371304）;山东省自然科学基金资助项目（Y2006C72）

摘　　要：目的探讨杀伤细胞免疫球蛋白样受体（KIRs）2D基因及其配体HLA-Cw等位基因与强直性脊柱炎的遗传易感性是否相关。方法以PCR-SSP基因分型技术检测105例强直性脊柱炎患者KIB2D基因（KIR2DL1、2DS1、2DL2、2DL3、2DS2）和HLA-Cw01～08等位基因，并将HLA-Cw01～08分成HLA-cw^lys和HLA-Cw^asn两组，分别计算KIR2D基因、HLA-Cw等位基因及活化性KIR／HLA-Cw组合基因型频率，并与51例骨关节炎患者和120名健康人群比较。结果强直性脊柱炎组患者HLA-Cw^lys基因频率为0．2697，高于骨关节炎组患者的0．1482（P=0．024）和健康对照者的0．1388（P=0．001）。强直性脊柱炎组患者KIR2DS1／HLA-Cw^lys组合基因型阳性率为26．67％，明显高于骨关节炎组的11．76％（P=0．039）和健康对照组的13．33％（P=0．018）。结论HLA-Cw^lys可能与强直性脊柱炎遗传易感性相关；当抑制性受体KIR2DL1的特异性配体HLA-Cw^lys存在时，KIR2DS1基因携带者可能是强直性脊柱炎的高危人群。Objective To investigate the alterations in killer cell immunoglobulin-like receptors （KIRs）2D and their specific HLA-Cw ligands in patients with ankylosing spondylitis （AS） and determine whether the changes were correlate to the pathogenesis of AS. Methods Polymerase chain reaction of sequence specific primers（PCR-SSP） was employed for genotyping the presence or absence of five KIR2D genes （KIR2DL1,2DS1, KIR2DL2, 2DL3, 2DS2） as well as HLA-Cw01-08 alleles from genomic DNA in 105 individuals with AS, together with 51 individuals with osteoarthritis （OA） and 120 healthy controls. Then HLA-C01-08 was divided into two groups. HLA-Cw^asn and HLA-Cw^lys to calculate the frequency of KIRID genotype, HLA-Gu alleles and KIR/HLA-Cw genotypes. Results The frequencies of HLA-Cw^lys genes were significantly higher in patients with AS（0. 269 7 ） compared with those in OA controls （0. 148 2） and healthy controls （0. 138 8, P = 0. 024, P = 0. 001, respectively）. The frequency of KIR2DS1/HLA-Cw^lys combination was also markedly higher in AS group （26. 67% ） than that in OA controls （11.76%） and healthy controls（ 13.33%, P = 0. 039, P = 0. 018, respectively）. Conclusion The data suggest that the HLA-Cw^lys allele may be associated with genetic susceptibility to AS and moreover, in the existence of HLA- Cw^lys, the individuals with KIR2DS1 gene are likely to be at increased risk of AS.

关 键 词：脊柱炎 强直性 受体 免疫 HLA抗原 组织相容性抗原Ⅰ类 多态现象  遗传 疾病遗传易感性 

分 类 号：R686[医药卫生—骨科学]