男性FASL-844基因多态性与特发性无精子症及严重少精子症发病风险的研究

目的:研究FASL-844位点基因多态性在中国南方汉族男性人群中的分布,探讨其与特发性无精子症及严重少精子症发病风险的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,分析184例特发性无精子症及严重少精子症患者与236例正常生育男性FASL-844位点的基因型及等位基因频率,分析该基因多态性与特发性无精子症及严重少精子症之间的关系。结果:不育组与正常生育组FASL-844CT和TT基因型分布差异有显著性(P=0.024;P=0.008)。携带FASL-844TT基因型个体罹患特发性无精子症或严重少精子症的风险是CC基因型个体的2.76倍(95%CI:1.20~6.35);将携带CC和CT基因型的个体合并,携带TT基因型的个体罹患特发性无精子症或严重少精子症的风险是(CC+CT)基因型个体的2.90倍(95%CI:1.28~6.58)。结论:FASL-844基因多态性可能是中国南方汉族男性特发性无精子症及严重少精子症的遗传易感因素之一。

Association of FASL-844 Polymorphism with the Risk of Idiopathic Azoospermia and Severe Oligozoospermia

OBJECTIVE: To study the distribution of FASL-844 polymorphism in southern Chinese males of Han nationality and examine the contribution of the polymorphism to susceptibility of idiopathic azoospermia and oligozoospermia. METHODS: FASL-844 polymorphism was genotyped by polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) in 184 infertile patients with idiopathic azoospermia or severe oligozoospermia 236 normal fertile male controls. RESULTS: Frequencies of FASL-844 CT and TT genotypes of the patients were significantly different from those of the controls (P = 0.024; P = 0.008). Males with FASL-844 TT genotype had an increased risk of idiopathic azoospermia or severe oligozoospermia compared with those with CC genotype (OR 2.76, 95% CI: 1.20-6.35), and even a higher risk when compared with those with CC and CT genotypes (OR 2.90, 95% CI: 1.28-6.58). CONCLUSION: FASL-844 polymorphism appears to be a genetic predisposing factor of idiopathic azoospermia or severe oligozoospermia among southern Chinese Han males.