Liu Shu-Yuan, Zhang Chang-Jun, Peng Hai-Ying, Sun Hao, Lin Ke-Qin, Huang Xiao-Qin, Huang Kai, Chu Jia-You, Yang Zhao-Qing
Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming 650118, China.
Reproductive Medical Research Centre, People's Hospital of Shiyan, Shiyan 442000, China.
Asian J Androl. 2017 Jul-Aug;19(4):486-492. doi: 10.4103/1008-682X.178850.
Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. In recent years, several genome-wide single-nucleotide polymorphism (SNP) association studies (GWAS) have been performed on azoospermia and/or oligozoospermia in different populations including two GWAS on nonobstructive azoospermia in China; however, the association of SNPs with idiopathic male infertility, especially asthenozoospermia and oligozoospermia, and their correlation with semen parameters are still not clear. To investigate genetic variants associated with idiopathic male infertility (asthenozoospermia, oligozoospermia, and oligoasthenozoospermia) in Chinese Han people, 20 candidate SNPs were selected from GWAS results and genotyped using the Sequenom MassARRAY assay. A total of 136 subfertile men and 456 healthy fertile men were recruited. rs6476866 in SLC1A1 (P = 1.919E-4, OR = 0.5905, 95% CI: 0.447-0.78) and rs10129954 in DPF3 (P = 0.0023, OR = 2.199, 95% CI: 1.311-3.689) were strongly associated with idiopathic male infertility. In addition, positive associations were observed between asthenozoospermia and rs215702 in LSM5 (P = 0.0016, OR = 1.479, 95% CI: 1.075-2.033) and between oligoasthenozoospermia and rs2477686 in PEX10 (P = 0.0011, OR = 2.935, 95% CI: 1.492-5.775). In addition, six SNPs (rs215702 in LSM5, rs6476866 in SLC1A1, rs10129954 in DPF3, rs1801133 in MTHFR, rs2477686 in PEX10, and rs10841496 in PED3A) were significantly correlated with semen quality alterations. Our results suggest that idiopathic male infertility in different ethnic groups may share the same mechanism or pathway. Cohort expansion and further mechanistic studies on the role of genetic factors that influence spermatogenesis and sperm progressive motility are suggested.
男性不育是一种多因素综合征，涵盖了各种各样的病症。近年来，针对不同人群的无精子症和/或少精子症开展了多项全基因组单核苷酸多态性（SNP）关联研究（GWAS），其中包括在中国进行的两项关于非梗阻性无精子症的GWAS；然而，SNP与特发性男性不育，尤其是弱精子症和少精子症的关联，以及它们与精液参数的相关性仍不明确。为了研究与中国汉族人群特发性男性不育（弱精子症、少精子症和少弱精子症）相关的基因变异，从GWAS结果中选取了20个候选SNP，并使用Sequenom MassARRAY分析进行基因分型。共招募了136名不育男性和456名健康有生育能力的男性。SLC1A1基因中的rs6476866（P = 1.919E - 4，OR = 0.5905，95% CI：0.447 - 0.78）和DPF3基因中的rs10129954（P = 0.0023，OR = 2.199，95% CI：1.311 - 3.689）与特发性男性不育密切相关。此外，观察到弱精子症与LSM5基因中的rs215702（P = 0.0016，OR = 1.479，95% CI：1.075 - 2.033）以及少弱精子症与PEX10基因中的rs2477686（P = 0.0011，OR = 2.935，95% CI：1.492 - 5.775）之间存在正相关。此外，六个SNP（LSM5基因中的rs215702、SLC1A1基因中的rs6476866、DPF3基因中的rs10129954、MTHFR基因中的rs1801133、PEX10基因中的rs2477686以及PED3A基因中的rs10841496）与精液质量改变显著相关。我们的结果表明，不同种族的特发性男性不育可能具有相同的机制或途径。建议扩大队列研究，并进一步开展关于影响精子发生和精子前向运动能力的遗传因素作用的机制研究。
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