目的 探讨中国汉族人群HLA-DRA基因rs7194位点多态性与非梗阻性无精症（NOA）遗传易感性的关系。方法 采用PCR产物直接测序的方法对275例NOA患者(病例组)和221例健康对照（对照组）进行基因分型,比较两组基因型和等位基因分布频率的差异。采用logistic回归分析方法探讨NOA的易感基因型，并采用meta 分析方法进一步验证rs7194位点多态性与NOA疾病是否相关。结果 rs7194位点的基因型频率和等位基因频率在病例组与对照组之间分布的差异均有统计学意义（P=0.003，P=0.001）。Logistic回归结果显示，相比于A/A基因型，A/G基因型和G/G基因型与NOA的患病风险增加相关（OR=1.837，P=0.002；OR=1.942，P=0.048）。Meta分析结果也表明HLA-DRA基因rs7194位点多态性与NOA相关。结论 HLA-DRA基因rs7194位点的多态性与中国汉族人群NOA易感性有关;携带G等位基因且为A/G或G/G基因型患NOA的倾向性增大,可能是患NOA的风险因素之一。

Objective To explore the correlation between the polymorphism of locus rs7194 in HLA-DRA gene of Chinese Han population and the hereditary susceptibility of non-obstructive azoospermia (NOA).  Methods The method of direct sequencing of PCR products was used for genotyping of 275 patients with NOA (case group) and 221 healthy controls (control group). The genotypes and distribution frequencies of alleles of two groups were compared. Logistic regression analysis was adopted to explore the susceptible genotypes of NOA. The meta-analysis was used to further verify the correlation between the polymorphism of locus rs7194 and NOA.  Results The differences of frequencies of genotypes and alleles of locus rs7194 between two groups were statistically significant (P=0.003 and P=0.001, respectively). Results of the logistic regression analysis showed that genotypes A/G and G/G correlated with the elevated incidence of NOA (OR=1.837, P=0.002; OR=1.942, P=0.048). Results of the meta analysis also indicated that the polymorphism of locus rs7194 in HLA-DRA gene correlated with NOA. Conclusion The polymorphism of locus rs7194 in HLA-DRA gene correlates with the hereditary susceptibility of NOA of Chinese Han population. The incidence of NOA of people carrying G allele with genotype A/G or G/G elevates. Genotypes A/G and G/G may be risk factors of the incidence of NOA.