Translator Disclaimer
18 June 2014 CREM Variants rs4934540 and rs2295415 Conferred Susceptibility to Nonobstructive Azoospermia Risk in the Chinese Population
Author Affiliations +
Abstract

To evaluate the association of variants related to spermatogenesis with susceptibility to Chinese idiopathic nonobstructive azoospermia (NOA), seventeen tag single-nucleotide polymorphisms (SNPs) in CREM, ACT, KIF17b, and SPAG8 were analyzed in 361 NOA patients and 368 controls by Sequenom iplex technology. The results showed that two CREM SNPs, rs4934540 and rs22954152, were significantly associated with NOA and played protective roles against the disease (P value with Bonferroni correction = 0.00017, odds ratio [OR] = 0.624 and P = 0.012, OR = 0.686, respectively). Haplotype analysis of CREM gene variants suggested that haplotype CGTG of the SNPs, rs4934540, rs2295415, rs11592356, and rs1148247, exhibited significant protective effect against the occurrence of NOA (P = 0.001, OR = 0.659). The haplotype TATG conferred a significantly increased risk of NOA (P = 0.011, OR = 1.317). Furthermore, making use of quantitative RT-PCR, we demonstrated that relative mRNA expression of CREM in NOA patients with maturation arrest was only one-third of that in the controls with normal spermatogenesis (P < 0.0001). Our findings indicated that the polymorphisms of CREM gene were associated with NOA in the Chinese population and low CREM expression might be involved in the pathogenesis of spermatogenesis maturation arrest.

Xiao-Jin He, Bing Song, Wei-Dong Du, Yun-Xia Cao, Yan Zhang, Jian Ruan, Hui Tian, Fu-Sheng Zhou, Xian-Bo Zuo, Huan Wu, Xing Zha, Xu-Shi Xie, Zhao-Lian Wei, and Ping Zhou "CREM Variants rs4934540 and rs2295415 Conferred Susceptibility to Nonobstructive Azoospermia Risk in the Chinese Population," Biology of Reproduction 91(2), (18 June 2014). https://doi.org/10.1095/biolreprod.114.120527
Received: 22 April 2014; Accepted: 1 June 2014; Published: 18 June 2014
JOURNAL ARTICLE
PAGES

This article is only available to subscribers.
It is not available for individual sale.
+ SAVE TO MY LIBRARY

SHARE
ARTICLE IMPACT
RIGHTS & PERMISSIONS
Get copyright permission
Back to Top