宁夏回族人群HLA-DQB1基因多态性与类风湿性关节炎的相关性

目的:探讨宁夏回族人群HLA-DQB1基因多态性与类风湿性关节炎(RA)的相关性。方法:采用序列特异性引物聚合酶链式反应(SSP-PCR)的方法对宁夏回族66例健康个体及70例RA患者的HLA-DQB1位点进行基因分型,应用遗传学统计方法对DQB1基因多态性与RA的相关性进行分析。结果:对照组与病例组等位基因的构成及基因型分布具有统计学意义。在对照组中,0501/0501和0501/0601这2种基因型频率最高,均为10.61%,在病例组中,0301/0303基因型频率最高(17.14%),0301/0302基因型频率次之(10.00%);*0501等位基因频率在对照组中高达24.24%,而在患者中仅为5%;*0301等位基因在RA患者中频率高达28.57%,而在对照组中仅为3.79%。结论:0301/0303和0301/0302这2种基因型可能与宁夏回族RA的易患性有关,*0301等位基因可能是宁夏回族易患RA的危险因子,而*0501等位基因可能为宁夏回族抗RA的基因。

Correlation between HLA-DQB1 gene polymorphisms and rheumatoid arthritis in Ningxia Hui population

Objective ： To investigate the correlation between gene polymorphisms of HLA-DQB1 and rheumatoid arthritis （RA） in Ningxia Hui population. Methods ：The method of PCR-SSP was used to examine the genotypes of HLA-DQB1 in 66 healthy individuals and 70 RA patients, and the genotype and allelic frenquencies were statistically analysed. Results The distribution of genotypes and alleles was significantly different between the control group and patient group. In control group, the frequencies of genotype 0501/0501 and 0501/0601 were the highest （10. 61%）, while in the patient group, the frequency of genotype 0301/0303 was the highest （17.14%） , and 0301/0302 was the second（10.00%）; In the control group, the frequency of allele ＊ 0501 was the highest （24. 24%）. In the patient group, the frequency of allele ＊ 0301 was the highest （28.57%）. Conclusion：In Ningxia Hui population, the two genotypes 0301/0303 and 0301/0302 are related to RA, allele ＊ 0301 might be a risk factor and ＊ 0501 might be a resistive factor of RA.