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

Cong Huang1, Wei Liu, Gui-Xiang Ji

  • 1State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China.

Asian Journal of Andrology
|July 10, 2012
PubMed

Insights

Genetic variations in the TP53 and MDM2 genes are linked to male infertility. Specific polymorphisms in TP53 and MDM2 increase the risk of infertility in men.

Area of Science:

  • Genetics
  • Reproductive Biology
  • Oncology

Background:

  • TP53 is a tumor suppressor crucial for spermatogenesis.
  • MDM2 regulates the p53 pathway, influencing p53 activity.
  • Germ cell apoptosis, linked to both proteins, may impact male fertility.

Purpose of the Study:

  • To investigate the association between common TP53 and MDM2 gene polymorphisms and idiopathic male infertility in a Chinese population.
  • To determine if specific genetic variants in TP53 (rs1042522, rs2287498) and MDM2 (rs937283) influence male infertility risk.
  • To explore potential interactions between these polymorphisms in the context of male infertility.

Main Methods:

  • A hospital-based case-control study was conducted.
  • Genotyping of 580 infertile patients and 580 fertile controls was performed using OpenArray assay.
  • Three polymorphisms were analyzed: TP53 72Arg>Pro (rs1042522), TP53 Ex2+19C>T (rs2287498), and MDM2 5' UTR 309T>G (rs937283).

Main Results:

  • TP53 Ex2+19C>T (rs2287498) and MDM2 309T>G (rs937283) polymorphisms were significantly associated with male infertility.
  • A near-significant additive interaction (P=0.055) was observed between TP53 rs2287498 and MDM2 rs937283.
  • The TP53 72Arg>Pro (rs1042522) polymorphism did not show a significant association with male infertility.

Conclusions:

  • Genetic variants in the TP53 pathway genes are potential risk factors for male infertility.
  • The study provides preliminary evidence linking specific TP53 and MDM2 polymorphisms to male infertility in the Chinese population.
  • Further research is warranted to elucidate the precise mechanisms and confirm these findings in diverse populations.

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