How to translate text using browser tools
10 December 2014 Genome-Wide Loci Linked to Non-Obstructive Azoospermia Susceptibility May Be Independent of Reduced Sperm Production in Males with Normozoospermia
Wenling Tu, Yunqiang Liu, Ying Shen, Yuanlong Yan, Xianding Wang, Dong Yang, Lei Li, Yongxin Ma, Dachang Tao, Sizhong Zhang, Yuan Yang
Author Affiliations +
Abstract

Non-obstructive azoospermia (NOA) is a complex, multifactorial disease. Recent genome-wide association studies (GWAS) have identified eight NOA susceptibility loci at genome-wide significance of P < 5.0 × 10−8 in Han Chinese from southeastern, northern, and central China. To better understand the role of the variants in conferring NOA risk, we selected four GWAS loci (HLA-DRA rs3129878, PRMT6 rs12097821, SOX5 rs10842262, and PEX10 rs2477686) that were reported before 2014 to investigate their association with NOA and their potential effects on sperm production in 1177 Han males from southwest China, including 545 patients with idiopathic NOA and 632 controls with normozoospermia. The results confirmed that the HLA-DRA rs3129878 was an NOA susceptibility locus in the present population. Along with our data, meta-analyses supported the association of the four GWAS-linked loci with NOA, whereas an additive effect of the four loci on NOA susceptibility was not found. Interestingly, the normozoospermic males with the risk genotypes of rs12097821 and rs3129878 rs10842262 rs12097821 were observed to have higher total sperm counts relative to non-risk genotypes, suggesting that the risk alleles of the genetic loci may not be via impairing spermatogenic ability to express susceptibility to NOA. These findings may advance our understanding of the role of the NOA susceptibility loci, although the results need to be confirmed in larger samples.

Wenling Tu, Yunqiang Liu, Ying Shen, Yuanlong Yan, Xianding Wang, Dong Yang, Lei Li, Yongxin Ma, Dachang Tao, Sizhong Zhang, and Yuan Yang "Genome-Wide Loci Linked to Non-Obstructive Azoospermia Susceptibility May Be Independent of Reduced Sperm Production in Males with Normozoospermia," Biology of Reproduction 92(2), (10 December 2014). https://doi.org/10.1095/biolreprod.114.125237
Received: 16 September 2014; Accepted: 1 December 2014; Published: 10 December 2014
KEYWORDS
genome-wide association study
Male infertility
non-obstructive azoospermia
single-nucleotide polymorphism
sperm
sperm production
spermatogenesis
RIGHTS & PERMISSIONS
Get copyright permission
Back to Top