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Asian Journal of Andrology (2012) 14, 691–694; doi:10.1038/aja.2012.39; published online 9 July 2012
Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population
Cong Huang1,2, Wei Liu1,2, Gui-Xiang Ji3, Ai-Hua Gu1,2, Jian-Hua Qu4, Ling Song1,2 and Xin-Ru Wang1,2
1 State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China
2 Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China
3 Nanjing Institute of Environmental Sciences/Key Laboratory of Pesticide Environmental Assessment and Pollution Control, Ministry of Environmental Protection, Nanjing 210042, China
4 School of Public Health, Nantong University, Nantong 226019, China
Correspondence: Dr XR Wang, (xrwang@njmu.edu.cn)
Received 7 February 2012; Revised 12 March 2012; Accepted 1 April 2012
Advance online publication 9 July 2.
| Abstract |
The TP53, a transcriptional regulator and tumor suppressor, is functionally important in spermatogenesis. MDM2 is a key regulator of the p53 pathway and modulates p53 activity. Both proteins have been functionally linked to germ cell apoptosis, which may affect human infertility, but very little is known on how common polymorphisms in these genes may influence germ cell apoptosis and the risk of male infertility. Thus, this study was designed to test whether three previously described polymorphisms 72Arg>Pro (rs1042522) and the Ex2+19C>T (rs2287498) in TP53, and the 5′ untranslated region (5′ UTR) 309T>G (rs937283) in MDM2, are associated with idiopathic male infertility in a Chinese population. The three polymorphisms were genotyped using OpenArray assay in a hospital-based case–control study, including 580 infertile patients and 580 fertile controls. Our analyses revealed that TP53 Ex2+19C>T and MDM2 309T>G polymorphisms are associated with male infertility. Furthermore, we detected a nearly statistically significant additive interaction between TP53 rs2287498 and MDM2 rs937283 for the development of male infertility (Pinteraction=0.055). In summary, this study found preliminary evidence, demonstrating that genetic variants in genes of the TP53 pathway are risk factors for male infertility.
Keywords: apoptosis; male infertility; MDM2; polymorphisms; TP53 |
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