AI Article Synopsis
- Non-obstructive azoospermia (NOA) is a severe form of male infertility, but its causes are not well understood and genetic factors remain largely unidentified.
- A genome-wide association study involving nearly 3,000 NOA patients and over 5,700 controls was conducted to discover genetic variants linked to NOA in Han Chinese men.
- The study found significant associations between NOA risk and specific genetic variants located near PRMT6, PEX10, and SOX5, suggesting these variants may play a role in the development of NOA.
Article Abstract
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.
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