蒙族和汉族人群HLA-DQA1基因多态性与支气管哮喘的关系

The association of Human leukocyte antigen class Ⅱ （ HLA-DQA1 ） gene polymorphisms and asthma among Mongolia and Han Chinese

目的 研究蒙族和汉族人群HLA-DQA1基因多态性与支气管哮喘的关系.方法 采用引物序列特异性聚合酶链反应（PCR-SSP）方法对祖籍三代居住在内蒙古地区无血缘关系、异族通婚史,无高血压、糖尿病、免疫系统疾病、炎性肠病等与HLA相关病史及家族史的汉族哮喘患者32例、蒙古族哮喘患者34例进行HLA-DQA1等位基因频率的检测,并分别与符合以上标准、长期居住在内蒙古地区的33例健康汉族和30例健康蒙古族对照者进行比较分析.结果 汉族哮喘组DQA1 ＊ 0501、0301、0302、0201等位基因频率分别为35.93%、46.88%、43.75%和40.63%,较汉族健康组（19.70%、36.37%、6.06%和6.06%）明显增高（P〈0.05）;蒙古族哮喘患者DQA1 ＊ 0501、0302、0104等位基因频率分别为22.06%、36.77%和16.18%,较健康蒙古族（5.00%,5.00%和5.00%）明显增高（P〈0.05）;健康汉族人群DQA1 ＊ 0501等位基因频率高于健康蒙古族人群（P〈0.05）;DQA1 ＊ 0201和0301等位基因却在汉族哮喘患者中明显增高,在健康蒙古族与蒙古族患者之间分布无差异.结论 DQA1 ＊ 0501、0302是汉族和蒙古族哮喘患者共同的易感基因;DQA1＊ 0201、0301等位基因是汉族哮喘患者发病特有的易感基因;DQA1 ＊ 0501等位基因是蒙古族人群中的一个少见基因;DQA1 ＊ 0104等位基因是蒙古族哮喘患者发病的易感基因;该研究进一步证明HLA-DQ基因的种族差异性和在哮喘发病方面的多态性.

Objective Asthma is a complex and multifactorial disorder. Human leukocyte antigen （HLA） class Ⅱ genes,especially HLA-DQ genes,which are highly polymorphic,have been thought to be candidate loci for the etiology of asthma. Aim of this study is to investigate the association between HLA- Ⅱ-DQA1 gene polymorphisms related to asthma among Mongolia and Han Chinese. Methods HLA- DQA1 genes were amplified by sequence-specific primer-polymerase chain reaction （SSP-PCR） method with 32 Han asthmatic patients,34 Mongolian asthmatic patients ,30 Han and 30 Mongolia randomly selected healthy controls. All these selected subjects have lived in Inner Mongolia at least three generations without history of marriage with other nationalities, without history of hypertension, diabetes, immunological diseases and inflammatory gastric-intestinal diseases related to HLA. Results DQA1 ＊ 0501,0301,0302, 0201 alleles（71.86% ,93.75% ,87.50% ,81.25% ）are significantly higher in Han asthmatic patients than those in Han healthy controls（ P 〈 0.05 ） ; DQA1 ＊ 0501,0302,0104 alleles（ 10.00%, 10.00%, 10, 00% ） are significantly higher in Mongolian asthmatic patients than those in Mongolia healthy controls （P 〈 0.05 ）. DQA1 ＊ 0501 allele is significantly higher in Han healthy controls than those in Mongolian healthy controls （ P 〈 0.05 ） , DQA1 ＊ 0201,0301 alleles are increased dramatically in Han asthmatic patients. Interestingly,there is no statistical difference between healthy Han and Mongolian controls for 0201, 0301alleles. Conclusions Our finding shows that DQA1 ＊ 0501,0302 alleles are common susceptive genes causing asthma in both Han and Mongolia population living in Inner Mongolia area. DQA1 ＊ 0201 0301 alleles are unique susceptive genes of asthma for Han Chinese population, but DQA ＊ 10104 allele is a susceptive one for Mongolia Chinese population. This study provides further evidence to confirm that the HLAⅡ-DQA1 gene polymorphisms and their different etiology in asthma among different nationalities.