• PMID: 21683070
• Gene Name: CYP1B1
• Condition: Male infertility
• Association: The results suggested that polymorphism of CYP1B1 modified the risk of male infertility, and men harboring this polymorphism had lower risk of abnormal sperm parameters.
• Mutation: rs1056836
• Population size: 1010
• Population details: 1010 (591 idiopathic infertile men, 419 fertile controls)
• Sex: Male
• Infertility type: Male infertiltiy
• Other associated phenotypes: Male infertility

Polymorphisms in CYP1B1 modify the risk of idiopathic male infertility with abnormal semen quality

Hu W, Yang H, Sun J, Zhang Q, Yang J, Lu L, Zhang J, Qin Y, Xia Y, Wang X.

BACKGROUND: It is acknowledged that Cytochrome P450 1B1 (CYP1B1) plays a crucial role in metabolism and is involved in lots of diseases. We carried out this study to evaluate the association between CYP1B1 single nucleotide polymorphisms (SNPs) and male infertility in the Han-Chinese population with abnormal semen parameters. METHODS: We genotyped five CYP1B1 polymorphisms by using TaqMan allelic discrimination assay and Genome Lab SNP-stream. A total of 591 idiopathic infertile men and 419 fertile controls were comprised in the research. Semen quality analysis was performed using computer assisted sperm analysis. According to semen parameters, we divided cases into 3 subgroups in the stratified analysis. RESULTS: In our study, we only found genetic variant rs1056836 is correlated with idiopathic male infertility (P=0.012). Additionally, in strategy analysis, rs1056836 may decrease the risk of abnormal sperm motility (OR=0.11, 95% CI=0.01, 0.86). While other four variants showed no significant association with male infertility. CONCLUSIONS: Our results suggested that polymorphism of CYP1B1 modified the risk of male infertility, and men harboring this polymorphism had lower risk of abnormal sperm parameters. These findings should be validated by more epidemiological and functional studies. CI - Copyright © 2011 Elsevier B.V. All rights reserved. FAU - Hu, Weiyue AU - Hu W AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, School of Public Health, Nanjing Medical University, China. FAU - Yang, Hua AU - Yang H FAU - Sun, Jie AU - Sun J FAU - Zhang, Qiuyi AU - Zhang Q FAU - Yang, Jingjin AU - Yang J FAU - Lu, Lu AU - Lu L FAU - Zhang, Jiacheng AU - Zhang J FAU - Qin, Yufeng AU - Qin Y FAU - Xia, Yankai AU - Xia Y