【作者】 张洁； 童建；

【Author】 Jie Zhang,Jian Tong School of Radiation Medicine and Public Health,Soochow University,Suzhou 215123,China

【机构】 苏州大学放射医学与公共卫生学院；

【摘要】 目的:阐明CLOCK基因多态性与男性原发性不育患者精液质量之间的关系。方法:以478例确诊的男性不育病例为对象,运用TaqMan SNP基因分型测定法及计算机辅助精液分析系统分析CLOCK基因三个标签SNPs(rs3749474,rs1801260,和rs3817444)与精液质量的关系,并采用生物信息学方法探讨了阳性SNPs发挥生物学功能的可能机制。结果:携带rs3749474 C等位基因(CC和TC)个体的精液体积、精子数量及精子运动能力均显著低于TT基因型携带者。rs1801260 TC基因携带者的精子运动能力显著低于TT基因型携带者,而CC和TT基因型携带者之间没有达到统计学差异。对于rs3749474来说,与CC基因型携带者相比,携带CA和AA基因型的个体精液体积显著减少,而其它精液参数未见影响。生物信息学分析发现,位点rs3749474、rs3817444可影响转录因子的结合。结论:CLOCK基因多态性的存在可能通过影响转录因子的结合而影响该基因的生物学功能,进而影响精液质量。更多还原

【Abstract】 Purpose:This study was aimed to examine association between single-nucleotide polymorphisms (SNPs) of the CLOCK gene and semen quality in a population with idiopathic infertility.Methodology:Three variant genotyping of CLOCK and semen analysis was performed in 478 males with idiopathic infertility by TaqMan SNP Genotyping Assays and computer-assisted semen analysis.Results:The subjects carrying a C allele at rs3749474(CC and TC) presented significantly lower semen volume,sperm number per ejaculate and sperm motility compared with the TT genotype.The rs1801260 TC genotype carriers had significantly lower sperm motility compared with the TT genotype,but the difference between CC and TT genotype carriers did not reach the level of statistical significance.For the rs3817444 genotypes,the CA and AA genotype carriers presented significantly lower semen volume compared with the CC genotype,with other parameters of sperm number per ejaculate and motility unaffected.The bioinformatics analysis found that variant rs3749474 and rs3817444 could alter transcription factor binding site,and in turn affect the sperm maturation process and male fertility.Conclusions:The findings indicate for the first time that the CLOCK genetic variants could alter transcription factor binding site,and in turn affect the semen quality in human population.更多还原