非梗阻性无精子症基因多态性分析研究

Analysis of non-obstructive azoospermia gene polymorphism

目的探讨非梗阻性无精子症(NOA)人群基因位点多态性以及发病风险的关联。方法采用Taqman-MGB探针法检测192例NOA患者和124例正常对照男性人群中SPO11基因rs28368082,TEX15基因rs323346,rs6980502;STAG3基因rs1637001;GPRC6A基因rs2274911,rs6901250;RNF8基因rs104669;BRDT基因rs3088232位点的基因型频率和等位基因频率,分析其与NOA发病的相关性。结果在NOA与对照组中TEX15基因rs323346多态性位点TT, CT, CC 3种基因型具有显著性差异(P <0.05),且rs323346多态性位点中与TT基因型的个体相比,携带CC基因型的个体患NOA的风险是携带TT基因型个体的1.745倍;其余多态性位点则在NOA与对照组中无差异。结论 TEX15基因rs323346多态性位点与NOA发病风险存在关联,可能是NOA的遗传易感基因之一。

Objective To investigate the association of gene polymorphism and risk of non-obstructive azoospermia. Methods In order to analysis its association with non-obstructive azoospermia, genotype frequency and allele frequency of SPO11 gene rs28368082, TEX15 gene rs323346, rs6980502, STAG3 gene rs1637001, GPRC6A gene rs2274911, rs6901250, RNF8 gene rs104669 and BRDT gene rs3088232 in 192 cases of non-obstructive azoospermia and 124 normal control male population were detected by Taqman-MGB probe method. Results In non-obstructive azoospermia and control group, the genotypes TT, CT and CC of TEX15 rs323346 polymorphism were significantly different(P <0.05), and rs323346 polymorphism sites compared with individuals with TT genotypes, individuals with CC genotype risk of non-obstructive azoospermia is 1.745 times the TT genotype individuals. The remaining polymorphic sites in non-obstructive azoospermia and the control group show no difference. Conclusion The polymorphism of TEX15 gene rs1523346 is associated with the risk of non-obstructive azoospermia, implies its might be one of the genetically susceptible genes of non-obstructive azoospermia.