• PMID: 18076421
• Gene Name: TP53
• Condition: Spermatogenic failure, infertility
• Association: The results of this study suggest that the codon72 and IVS7+72C>T polymorphisms of the p53 gene are unlikely to contribute to the pathogenesis of idiopathic male infertility with spermatogenetic failure.
• Mutation: codon72 and IVS7+72C>T polymorphisms of the p53
• Population size: 431
• Population details: 431 (198 idiopathic infertile patients with nonobstructive azoospermia or severe oligozoospermia, 233 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatogenic failure, infertility

Lack of association between polymorphisms in p53 gene and spermatogenetic failure in a Chinese population

Lu NX, Xia YK, Gu AH, Liang J, Wang SL, Wang XR.

Although various genetic factors have been demonstrated in human male infertility, many genetic causes involving gene variants for the idiopathic male infertility have not yet been elucidated. P53 gene is involved in the meiosis of the male rat and mice, which suggested that p53 plays a critical role in spermatogenesis. To examine whether the codon72 polymorphism and IVS7+72C>T polymorphism of the human p53 gene are associated with spermatogenetic failure in Han-Chinese population. A case-control study was conducted with 198 idiopathic infertile patients with nonobstructive azoospermia or severe oligozoospermia and 233 fertile controls. We genotyped the two polymorphisms, codon72 and IVS7+72C>T, using polymerase chain reaction-restriction fragment length polymorphism assay. The polymorphisms were identified in both infertile patients and fertile controls. The allele and genotype frequencies of the two polymorphisms were not significantly different between the patients and controls. Further analysis showed that there was no statistically significant difference in the haplotype distributions between the patients and controls. The results of this study suggest that the codon72 and IVS7+72C>T polymorphisms of the p53 gene are unlikely to contribute to the pathogenesis of idiopathic male infertility with spermatogenetic failure. FAU - Lu, N X AU - Lu NX AD - Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, China. FAU - Xia, Y K AU - Xia YK FAU - Gu, A H AU - Gu AH FAU - Liang, J AU - Liang J FAU - Wang, S L AU - Wang SL