精子Tektin-2基因单核苷酸多态性与特发性弱精子症的相关性研究

目的探讨Tektin-2基因的单核苷酸多态性(SNP)位点rs12043423与特发性弱精子症的相关性。方法采用病例对照法,随机选取特发性弱精子症患者192例作为弱精子症组,另募集同期208例精子活力正常的不育男性作为不育症组和213例精液正常的已生育男性作为正常对照组,所有研究对象均进行精液分析,对三组患者Tektin-2基因的SNP位点rs12043423进行基因分型,比较三组间的基因型和等位基因频率,并且进行与特发性弱精子症的关联分析。结果(1)弱精子症组Tektin-2基因的SNP位点rs12043423的CC基因型频率显著低于正常对照组及不育症组,TT基因型频率则显著增加(P<0.05),而CT基因型频率在三组间的分布频率无显著性差异(P>0.05)。弱精子症组C等位基因的分布频率显著低于正常对照组和不育症组,而T等位基因的频率显著高于正常对照组和不育症组(P<0.05)。不育症组和正常对照组比较,不同基因型的分布频率及等位基因的频率在两组间均无显著性差异(P>0.05)。(2)弱精子症组与正常对照组比较,Tektin-2基因突变(杂合子CT]和纯合子TT])的发生率为61.5%vs.50.2%,TT基因型与弱精子症的风险因素分析结果为OR=1.968,95%CI(1.041,3.723),P=0.035];弱精子症与不育症组比较,Tektin-2基因突变(CT+TT)的发生率为61.5%vs.51.5%,TT基因型与弱精子症的风险因素分析结果为OR=1.918,95%CI(1.014,3.630),P=0.043]。结论Tektin-2基因rs12043423的多态性位点TT基因型和T等位基因增加特发性弱精子症的易感性,在特发性弱精子症的发展中可能是危险因素。

Relationship between single nucleotide polymorphism of sperm Tektin-2 gene and idiopathic asthenozoospermia

Objective:To investigate the relationship between the single nucleotide polymorphism locus rs12043423 of Tektin-2 gene and idiopathic asthenozoospermia Methods:Using case-control method,192 patients with idiopathic asthenozoospermia were randomly selected as the asthenozoospermia group,208 infertile men with normal sperm motility as infertility group and 213 normal males with normal semen as normal control group.All subjects had semen analysis and genotyping of the SNP site rs12043423 of the Tektin-2 gene.The genotype and allele frequencies were compared among the three groups,and the association analysis with idiopathic asthenozoospermia was performed.Results:The frequency of CC genotype of the asthenozoospermia group was significantly lower than that of the normal control group and the infertility group,while the TT genotype was significantly increased(P<0.05).There was no significant difference in the frequency of CT genotype among the three groups(P>0.05).The frequency of C alleles in the asthenozoospermia group was significantly lower than that in the normal control group and the infertility group,while the frequency of the T allele was significantly higher than that in the normal control group and infertility group(P<0.05).There was no significance in the frequency of different genotypes and the frequency of alleles between the normal control group and the infertility group(P>0.05).The incidence of Tektin-2 gene mutation(heterozygousCT]and homozygoteTT])in the asthenozoospermia group and the normal control group was 61.5%vs.50.2%,and the analysis results of TT genotye and risk factors for asthenospermiawas wasOR=1.968,95%CI(1.041,3.723),P=0.035].The incidence of Tektin-2 gene mutation(heterozygousCT]and homozygousTT])in asthenozoospermia group and the infertility group was 61.5%vs.51.5%,and the analysis results of TT genotye and risk factors for asthenospermia wasOR=1.918,95%CI(1.014,3.630),P=0.043].Conclusions:The rs12043423 TT genotype and T allele of the Tektin-2 gene increase the susceptibility to idiopathic asthenozoospermia,and which may be the risk factors in the development of idiopathic asthenozoospermia.