长三角地区重度少弱精子症与卵泡刺激素受体基因单核苷酸多态性相关性研究

目的:研究卵泡刺激素受体(FSHR)基因Thr307Ala(rs6165)和Asn680Ser(rs6166)单核苷酸多态性(SNP)基因型分布情况及其与中国长三角地区重度少弱精子症的关联性。方法:外周血提纯DNA,PCR扩增后直接测序分析200名已育男性(已生育组)和150名重度少弱精子症不育男性(不育组)FSHR基因Thr307Ala和Asn680Ser位点的SNP,并用χ2检验进行相关性分析。结果:FSHR基因Thr307Ala和Asn680Ser多态性位点的基因型分布在已生育组和不育组间无统计学差异(P>0.05)。Thr-Asn/Ala-Asn和Thr-Ser/Thr-Ser双倍型在已育男性与重度少弱精子症患者间分布差异有统计学意义(P<0.05),组间FSHR的单倍型Thr-Asn和Ala-Asn之间亦有统计学差异(P<0.05)。结论:FSHR基因Thr307Ala和Asn680Ser的2个多态性位点特定的单倍型和双倍型与男性不育有一定的相关性。

Relationship of Single Nucleotide Polymorphism of Follicle-stimulating Hormone Receptor Gene and Severe Oligoasthenozoospermia in Yangtze River Delta of China

Objective: To study the frequency of two common variants of the follicle-stimulating hormone receptor(FSHR) gene in infertile men in Yangtze River Delta region of China and their potential relevance with the severe oligoasthenozoospermia.Methods: Peripheral blood was taken from 150 patients with severe oligoasthenozoospermia(infertile group) and 200 healthy fertile men(the control).Two polymorphisms(Thr307Ala and Asn680Ser) of the FSHR gene were evaluated by direct DNA sequencing method in the case-control sample.Results: The frequency of FSHR Thr307Ala and Asn680Ser variants was not significantly different between the infertile group and the control.However,the two marker Thr-Asn,Ala-Asn haplotypes and Thr-Asn/Ala-Asn,Thr-Ser/Thr-Ser diplotypes covering components of Thr307Ala and Asn680Ser were observed to be significantly associated with severe oligoasthenozoospermia.Conclusion: FSHR might play a role in genetic susceptibility to the severe oligoasthenozoospermia.However,confirmatory studies in independent samples are needed.