GRTH基因SNPrs551373与严重少精症的相关性

目的：研究GRTH基因的单核苷酸多态位点（SNP）rs551373（G〉T）的多态性与严重少精症的关系。方法：用PCR—RFLP技术，在119例严重少精症患者和252个正常生育男性中，对SNPrs551373的基因频率和基因型频率的分布进行调查。结果：严重少精症患者中基因型GG的频率明显低于正常男性（72．3％vs．83．3％，降0．013，OR=0．503，95％CI0．299～0．848）；而等位基因T（13．7％vs．8．7％，P=0．021，OR=1．742，95％CI1．082～2．807）和基因型GT（26．9％vs．15．9％，P=0．012，OR=1．949，95％CI1．150～3．304）的频率则显著高于正常男性。结论：GRTH基因的SNPrS551373的多态性与严重少精症的易感性相关。

Association between Polymorhism of SNPrs551373 in GRTH Gene and Severe Oligospermia

Objective: To study the relationship between the single nucleotide plymorpism(SNP) rs551373(G>T) in gonadotropin-regulated testicular RNA helicase(GRTH) gene and severe oligospermia.Methods: The allele and genotype frequencies of SNP rs551373 were investigated in 119 patients with severe oligospermia and 252 normal men as controls by polymorase chain reaction and polymerase chain reaction-restriction fragment length polyphism analysis(PCR-RFLP).Results: The frequency of genotype GG decreased significantly in patients with severe oligospermia compared with normal men(72.3% vs.83.3%,P=0.013,OR=0.503,95% CI 0.299~0.848),while the frequencies of allele T(13.7% vs.8.7%,P=0.021,OR=1.742,95% CI 1.082~2.807)and genotype GT(26.9% vs.15.9%,P=0.012,OR=1.949,95% CI 1.150~3.304) in patients were significantly higher than those in controls.Conclusion: The polymorphism of SNP rs551373 in GRTH gene was associated with the susceptibility to severe oligospermia.