一项针对中国男性的全基因组关联研究鉴定出非梗阻性无精子症的三个风险位点。
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
机构信息
State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
出版信息
Nat Genet. 2011 Dec 25;44(2):183-6. doi: 10.1038/ng.1040.
Non-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Its pathophysiology is largely unknown, and few genetic influences have been defined. To identify common variants contributing to NOA in Han Chinese men, we performed a three-stage genome-wide association study of 2,927 individuals with NOA and 5,734 controls. The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)). These findings implicate genetic variants at 1p13.3, 1p36.32 and 12p12.1 in the etiology of NOA in Han Chinese men.
非阻塞性无精子症（NOA）是男性不育症最严重的形式之一。其病理生理学在很大程度上尚不清楚，并且已经确定了很少的遗传影响。为了确定导致汉族男性 NOA 的常见变异，我们对 2927 名 NOA 患者和 5734 名对照进行了三阶段全基因组关联研究。综合分析确定了 PRMT6 附近常见变异与 NOA 风险之间存在显著关联（P < 5.0×10(-8))（rs12097821 位于 1p13.3：比值比（OR）= 1.25，P = 5.7×10(-10)）、PEX10(rs2477686 位于 1p36.32：OR = 1.39，P = 5.7×10(-12)) 和 SOX5(rs10842262 位于 12p12.1：OR = 1.23，P = 2.3×10(-9))。这些发现提示 1p13.3、1p36.32 和 12p12.1 上的遗传变异与汉族男性 NOA 的病因有关。
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