【摘 要】
：
目的：探讨SOHLH1和SOHLH2基因多态性与非梗阻性无精子症的易感性.方法：应用Sequenom MassArray质谱阵列技术对361例非梗阻性无精子症(non-obstructive azoospermia,NOA)患者和368例已生育的汉族男性人群SOHLH1和SOHLH2基因的7个标签单核苷酸多态(single nucleotide polymorphism, SNP)位点(rs558
【机 构】
：
安徽医科大学第一附属医院生殖医学中心 230022 安徽医科大学生命科学院 230032
【出 处】
：
2015中国医师协会妇产科医师大会
论文部分内容阅读
目的：探讨SOHLH1和SOHLH2基因多态性与非梗阻性无精子症的易感性.方法：应用Sequenom MassArray质谱阵列技术对361例非梗阻性无精子症(non-obstructive azoospermia,NOA)患者和368例已生育的汉族男性人群SOHLH1和SOHLH2基因的7个标签单核苷酸多态(single nucleotide polymorphism, SNP)位点(rs558113, rs1328626, rs6563386, rs2296967, rs2296968, rs1328641,rs17053630)进行基因型检测.应用Plink 1.07、STATA等软件对数据资料进行统计分析,比较对照组与病例组最小等位基因频率(MAF)及基因型分布差异,并对SOHLH2基因进行单体型分析.根据患者FSH水平、睾丸大小各分成2个亚组,分析各位点基因型在这几个亚组中的分布情况.结果：SOHLH2基因的2个标签SNP的最小等位基因频率、基因型分布在实验组和对照组均有统计学差异,其中rs1328626最小等位基因T降低NOA的发病风险(P=0.038,OR=0.799,95％CI=0.645-0.988),而rs6563386最小等位基因G增加NOA的患病风险(P=0.029,OR=1.402,95％CI=1.034-1.9).单体型分析显示GC单体型可以明显增加NOA的患病风险(P=.031,OR=1.397,95％CI=1.03 1～1.895).临床资料分析显示rs1328641位点基因型在NOA睾丸大小亚组分布有显著性差异(P=0.022).结论：SOHLH2基因两个多态性位点rs1328626和rs6563386与NOA的易感性相关,rs1328641位点可能与NOA病人睾丸发育相关.
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