• PMID: 22773013
• Gene Name: MDM2
• Condition: Male infertility
• Association: The analysis revealed that TP53 Ex2+19C>T and MDM2 309T>G polymorphisms are associated with male infertility.
• Mutation: TP53 rs2287498 and MDM2 rs937283
• Population size: 1160
• Population details: 1160 (580 infertile patients, 580 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: TP53, MDM2
• Other associated phenotypes: Male infertility

Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population

Huang C, Liu W, Ji GX, Gu AH, Qu JH, Song L, Wang XR.

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 (P(interaction)=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. FAU - Huang, Cong AU - Huang C AD - State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China. FAU - Liu, Wei AU - Liu W FAU - Ji, Gui-Xiang AU - Ji GX FAU - Gu, Ai-Hua AU - Gu AH FAU - Qu, Jian-Hua AU - Qu JH FAU - Song, Ling AU - Song L