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目的利用基于群体的病例对照关联分析方法,探讨ERAP1基因是否为北方汉族人群的易感基因。方法从山东省立医院收集了311例临床确诊的强直性脊柱炎病例及320例正常对照资料,利用Taqman探针法对ERAP1基因内的两个单核苷酸多态性位点rs7711564和rs27434分型,利用PLINK软件行Hardy-Weinberg遗传平衡检验、等位基因及基因型频率分布分析。样本统计学效能采用CaTS软件计算。结果两个位点在病例组及对照组中均达到遗传平衡,其中rs7711564位点罕见等位基因频率在病例组及对照组分别为0.430 9和0.489 1(OR=1.26,P=0.04),rs27434位点罕见等位基因频率在病例组和对照组分别为0.483 9与0.421 9(OR=0.78,P=0.03)。结论 ERAP1基因内的遗传变异与北方汉族人群强直性脊柱炎相关,进一步证实了该基因是强直性脊柱炎的易感基因。
OBJECTIVE: To explore whether ERAP1 is a susceptible gene in Northern Han population by using population-based case-control association analysis. Methods 311 cases of clinically diagnosed ankylosing spondylitis and 320 normal controls were collected from Shandong Provincial Hospital. The two SNPs rs7711564 and rs27434 in ERAP1 gene were detected by Taqman probe Type, the use of PLINK software Hardy-Weinberg genetic balance test, allele and genotype frequency distribution analysis. The statistical performance of the sample was calculated using CaTS software. Results The two loci achieved genetic balance in both cases and control groups. The frequency of the rare allele at rs7711564 locus was 0.430 9 and 0.489 1 (OR = 1.26, P = 0.04), rs27434 The frequencies of the rare alleles at the loci were 0.483 9 and 0.421 9 (OR = 0.78, P = 0.03), respectively. Conclusion The genetic variation in ERAP1 gene is associated with ankylosing spondylitis in northern Han Chinese population, further confirming that the gene is an susceptible gene in ankylosing spondylitis.