云南汉族人群HLA-B基因多态性与类风湿性关节炎的相关性研究

目的 探讨HLA-B基因多态性与类风湿性关节炎(rheumatoid arthritis,RA)的关联性.方法 采用DNA测序和序列特异性引物聚合酶链式反应(polymerase chain reaction-sequencespecific primer,PCR-SSP)方法检测云南汉族中271例类风湿性关节炎患者和264例正常人群的HLA-B基因多态性并进行关联性分析.结果 女性类风湿性关节炎患者的HLA-B*40基因频率(8.84％)明显低于女性对照组(18.33％)(P=0.000),HLA-B*51基因频率(9.53％)明显高于对照组(2.83％)(P=0.000),HLA-B*48基因频率(0.23％)明显低于对照组(2.33％)(P=0.007),差异均有统计学意义.HLA-B*40、HLA-B*51、HLA-B* 48的基因频率在男性类风湿性关节炎患者和男性对照中的分布无统计学差异(P值分别为0.535、0.691、0.289).结论 云南汉族人群中HLA-B基因分布存在多态性.HLA-B基因多态性与云南汉族人群女性类风湿性关节炎的发病相关,HLA-B*51可能是易感基因,HLA-B*40、HLA-B* 48可能是保护性等位基因.

The association between HLA-B gene polymorphism and Rheumatoid Arthritis in Han Chinese of Yunnan,China

Objective To investigate the association between rheumatoid arthritis (RA) and the polymorphism of HLA-B gene.Methods A case-control study was performed by examining the polymorphism of HLA-B allele in 271 RA patients and 264 health controls using polymerase chain reaction and DNA-Sequencing (PCR-SSP),and the associations between HLA-B alleles and RA were also analyzed.Results In femaleindividuals,the frequency of HLA-B* 40 (8.84 ％) allele in the RApatients was significantly lower than that in controls (18.33％,P =0.000),HLA-B* 51 (9.53％) allele was significantly higher than that in controls (2.83％,P =0.000) and HLA-B* 48 (0.23％) allele was significantly lower than that in the controls (2.33％,P =0.007).However,in the male individuals,the frequencies of HLA-B* 40,HLA-B* 51 and HLA-B* 48 had no significant difference between RA patients and controls (P values were 0.535,0.691,and 0.289).Conclusion HLA-B gene is highly polymorphic in Han Chinese of Yunnan.The polymorphism of HLA-B allele is associated withRA in female,HLA-B* 51 may increase the risk of RA,although HLA-B* 40 and HLA-B* 48 might be protective alleles against RA.