中国北方汉族人群中HLA-B27基因多态性与强直性脊柱炎的关联研究  

Relationship between HLA-B27 polymorphism and ankylosing spondylitis in Northern Han Chinese

作　　者：张志坚[1,2] 袁方[2] 梁飞[2] 刘楠[2] 金荔[2] 奚永志[2] 孙玉英[2] 

机构地区：[1]安徽医科大学解放军307临床学院,北京100071 [2]军事医学科学院附属医院免疫学研究室国家生物医学分析中心免疫分析实验室

出　　处：《中国输血杂志》2012年第3期213-216,共4页Chinese Journal of Blood Transfusion

基　　金：国家自然科学基金面上项目(81071448)

摘　　要：目的首次通过大宗病例对照研究来探讨HLA-B27基因多态性在中国北方汉族强直性脊柱炎(AS)患者以及健康对照人群中的分布情况并研究B27多态性与AS的关联性。方法选用602例北方汉族AS病例和694例健康无关对照进行病例对照研究。HLA-B27基因多态性分析采用序列特异引物介导的PCR反应(PCR-SSP)方法。关联性分析采用卡方检验。结果在AS患者及健康对照中分别有82.4%和7.5%的个体为B27阳性。关联分析证实B27与AS之间存在强相关性(OR=58,p=6.5×10-163)。本研究共发现5种B27基因多态性,B*2705、B*2704、B*2702、B*2707和B*2724,其中B*2704、B*2705和B*2702都与AS有强相关性,而B*2704的相关性最强(P=1.4×10-68),但是B*2705诱发AS的危险度却高于B*2704;B*2707和B*2724与AS则没有相关性。另外,北方汉族与上海、广东、台湾地区AS患者中B27基因多态性的分布有较大差异(其中B*2705差异最显著,P=6.28×10-52);而且4个地区人群中不同B27基因多态性诱发AS的风险度也有明显不同。结论本研究证实B27与AS之间存在高度相关性,并首次发现B*2704虽与北方汉族人群AS发病最为相关,但其诱发AS的相对危险度却低于B*2705。B27基因多态性在AS患者中的分布是存在地域差异的,这一现象提示不同地区汉族人群的AS在遗传学发病机制上是有其独特性的。Objectlve To explore the distribution of HLA-B27 gene polymorphism among ankylosing spondylitis （AS） patients and healthy controls from northern Han Chinese and study the association between B27 genetic polymorphism and AS. Methods A total of 602 AS patients and 694 healthy controls of Northern Han Chinese were selected for case-control study. PCR-SSP was manipulated to analyze HLA-B27 polymorphism and Chi square test was used for Relevance analy- sis. Results There were 82.4% and 7.5% B27-positive individuals in the cases and control groups, respective- ly. Association analyses confirmed the strong correlation （OR = 58 ,P = 6. 5×10^-163） between B27 and AS. We detected five B27 genetic polymorphisms, B＊ 2705, B ＊ 2704, B＊ 2702, B ＊ 2707 and B ＊ 2724. among which B ＊ 2704, B＊ 2705 and B＊2702 were all in correlation with AS and the most relevant polymorphism was B ＊ 2704 （P = 1.4×10^-68）, but B ＊ 2705 has a higher risk for AS inducing than B＊ 2704. among B ＊ 2707 and B ＊ 2724 had no correlation with AS. In addition, the distribution of B27 genetic polymorphism among northern Han, Shanghai, Guangdong and Taiwan AS patients were in large differences（ the most significant different B27 polymorphism was B＊ 2705, P = 6. 28 × 10^-52 ）, and there were marked differences with the distribution of B27 genetic polymorphisms and odds ratio for AS occurrence in the above four regional populations. Conclusion This study confirms the high degree of correlation between B27 and AS, and is the first time to report that although B＊ 2704 is the most relevant AS among North Han Chinese, the risk for inducing AS occurrence is lower than B＊2705. There are regional differences in the distrbution of B27 genetic polymorphism distribution in AS patients, which indicates the AS patients from different regions should have unique character on its genetic pathogenesis.

关 键 词：强直性脊柱炎 HLA-B27 多态性 相关性 

分 类 号：R457.11[医药卫生—治疗学] R551.3[医药卫生—临床医学]