强直性脊柱炎患者杀伤细胞免疫球蛋白样受体基因型和单倍型分析  

Genotype and haplotype analysis of killer cell immunoglobulin-like receptors in ankylosing spondylifis

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

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

出　　处：《中华医学杂志》2009年第2期91-95,共5页National Medical Journal of China

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（Y2008C134）

摘　　要：目的分析杀伤细胞免疫球蛋白样受体（KIR）基因型和单倍型在强直性脊柱炎患者中的分布特点。方法采用序列特异性引物聚合酶链反应方法，分析105例强直性脊柱炎患者、62例骨关节炎患者和412名健康对照KIR基因型和单倍型。结果（1）强直性脊柱炎组KIR基因型3DL3-2DL3-2DL1-2DPI-2DL4—3DL1-2DS4-3DL2阳性率（6．67％）明显低于健康对照组和骨关节炎组（20．15％，17．74％；P=0．001，0．037）。（2）强直性脊柱炎组KIR基因型3DL3—2DL3-2DL2—2DL1—2DPI—2DIA-3DLI-2DL5-2DS1-2DS2-2DS3-2DS4-2DS5-3DS1—3DL2阳性率（9．52％）及基因型3DL3-2DL3—2DL2-2DLI-2DPI—2DIA-3DL1—2DL5-2DS1—2DS4—3DL2阳性率（5．71％）明显高于健康对照组（2.18％，0．49％；P=0．001，0．001），骨关节炎组未检出这2种基因型。（3）三组人群KIR单倍型差异无统计学意义。结论KIR基因型分布异常，可能是强直性脊柱炎的免疫遗传因素，其分子机制有待进一步研究。Objective To investigate the association of killer cell immunoglobulin-like receptors （K/R） genotype and haplotype with ankylosing spondylitis （AS）. Methods Peripheral blood samples were collected from 105 AS patients, 62 patients of osteoarthritis （ OA ）, and 412 randomly selected healthy controls. Polymerase chain reaction with sequence-specific primers （PCR-SSP） was used to detect the KIR genotype and haplotype. Results The genotype frequency of 3DL3-2DL3-2DL1-2DP1-2DL4-3DL1-2DS4- 3DL2 （6.67%）was significantly lower in the AS patients than in the control subjects （20.15%） and OA patients（ 17.74%, P = 0. 001,0. 037 respectively）. The genotype frequency of 3DL3-2DL3-2DL2-2DL1- 2DP1-2DL4-3DL1-2DIS-2DS1-2DS2-2DS3-2DS4-2DS5-3DS1-3DL2 and 3DL3-2DL3-2DL2- 2DLt-2DP1- 2 DIA-3 DL1-2 DL5-2DS1-2DS4-3 DI2 of the AS patients （ 9.52% ,5.71% ） was significantly higher than that of the controls（2.18% ,0.49% ;P = 0. 001,0. 001 ）, and these two genotypes were not detected in the OA patients. There were not significant differences in the haplotypes A and B among the AS patients, OA patients, and healthy controls. Conclusion KIR genotypes may be associated with the susceptibility to AS.

关 键 词：脊柱炎 强直性 基因型 单倍型 杀伤细胞免疫球蛋白样受体 

分 类 号：R686[医药卫生—骨科学]