• PMID: 24943041
• Gene Name: CREM
• Condition: Idiopathic nonobstructive azoospermia
• Association: Associated
• Mutation: CREM (rs4934540, rs2295415)
• Population size: 729
• Population details: 729 (361 idiopathic nonobstructive azoospermia NOA patients and 368 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: CREM, ACT, KIF17b, and SPAG8
• Other associated phenotypes: Idiopathic nonobstructive azoospermia

CREM variants rs4934540 and rs2295415 conferred susceptibility to nonobstructive azoospermia risk in the Chinese population

He XJ, Song B, Du WD, Cao YX, Zhang Y, Ruan J, Tian H, Zhou FS, Zuo XB, Wu H, Zha X, Xie XS, Wei ZL, Zhou P.

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. CI - © 2014 by the Society for the Study of Reproduction, Inc. FAU - He, Xiao-Jin AU - He XJ AD - Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, China Institute of Reproductive Medicine, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China. FAU - Song, Bing AU - Song B AD - Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, China Institute of Reproductive Medicine, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China. FAU - Du, Wei-Dong AU - Du WD AD - Department of Biology, Anhui Medical University, Hefei, China State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, China weidongdu@hotmail.com. FAU - Cao, Yun-Xia AU - Cao YX AD - Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, China Institute of Reproductive Medicine, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China caoyunxia6@126.com. FAU - Zhang, Yan AU - Zhang Y AD - Department of Biology, Anhui Medical University, Hefei, China. FAU - Ruan, Jian AU - Ruan J AD - Reproductive Medicine Center, Yijishan Hospital of Wannan Medical University, China. FAU - Tian, Hui AU - Tian H AD - Department of Cell and Developmental Biology, School of Life Sciences, University of Science and Technology of China, Hefei, China. FAU - Zhou, Fu-Sheng AU - Zhou FS AD - State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, China. FAU - Zuo, Xian-Bo AU - Zuo XB AD - State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, China. FAU - Wu, Huan AU - Wu H AD - Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, China Institute of Reproductive Medicine, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China. FAU - Zha, Xing AU - Zha X AD - Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, China Institute of Reproductive Medicine, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China. FAU - Xie, Xu-Shi AU - Xie XS AD - Department of Biology, Anhui Medical University, Hefei, China. FAU - Wei, Zhao-Lian AU - Wei ZL AD - Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, China Institute of Reproductive Medicine, Anhui Medical University, Hefei, China Anhui Provincial Engineering Technology Research Center of Biopreservation and Artificial Organs, Hefei, China.