International Journal of Infertility & Fetal Medicine

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VOLUME 12 , ISSUE 2 ( May-August, 2021 ) > List of Articles


Role of TP53 Gene Polymorphism in Male Infertility

Rekha Govindhasamy, Paramesh Govindhasamy, Rajitha Vanga, Pushpa Burute

Keywords : Azoospermia, Male infertility, p53 gene polymorphism, Polymorphism, TP53 gene

Citation Information : Govindhasamy R, Govindhasamy P, Vanga R, Burute P. Role of TP53 Gene Polymorphism in Male Infertility. Int J Infertil Fetal Med 2021; 12 (2):44-48.

DOI: 10.5005/jp-journals-10016-1218

License: CC BY-NC 4.0

Published Online: 00-08-2021

Copyright Statement:  Copyright © 2021; Jaypee Brothers Medical Publishers (P) Ltd.


Introduction: The TP53 gene is located on chromosome 17p13.1.P53 gene considered as the guardian of the genome belongs to a three-membered gene family p53, p63, and p73.1 p53 plays a vital role in human cancer and whose mutation was observed in nearly 50% of cancer all around the world. In the present study, genotype distribution was assessed in 147 infertile males, fertile males, and the associations of TP53 Arg72Pro polymorphism with hormonal and seminal parameters were investigated. Materials and methods: A total of 147 infertility men and 150 fertile men were taken for the study. Polymerase chain reaction (PCR) was carried out to amplify the exon 4 of the human p53 CODON 72 genotyping was performed by restriction fragments length polymorphism (RFLP). Results: In summary, the AA genotype and the A allele are significantly associated with azoospermic men when compared to fertile men. Conclusion: The study found preliminary evidence demonstrated that the TP53 gene Arg72 Pro polymorphism contributes significant association to male infertility. Aim and objective: To analyze the association of p53 gene polymorphism in male infertility cases in the study population.

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  1. Schmale H, Bamberger C. A novel protein with strong homology to the tumor suppressor p53. Oncogene 1997;15(11):1363–1367. DOI: 10.1038/sj.onc.1201500.
  2. Poongothai J, Gopenath TS, Manonayaki S, et al. Genetics of human male infertility. Singapore Med J 2009;50(4):336–347.
  3. Odorisio T, Rodriguez TA, Evans EP, et al. The meiotic checkpoint monitoring synapsis eliminates spermatocytes via p53-independent apoptosis. Nat Genet 1998;18(3):257–261. DOI: 10.1038/ng0398-257.
  4. Schwartz D, Goldfinger N, Rotter V. Expression of p53 protein in spermatogenesis is confined to the tetraploid pachytene primary spermatocytes. Oncogene 1993;8(6):1487–1494.
  5. Sjöblom T, Lähdetie J. Expression of p53 in normal and γ-irradiated rat testis suggests a role for p53 in meiotic recombination and repair. Oncogene 1996;12(12):2499–2505.
  6. Paul C, Povey JE, Lawrence NJ, et al. Deletion of genes implicated in protecting the integrity of male germ cells has differential effects on the incidence of DNA breaks and germ cell loss. PLoS ONE 2007;2(10):e989. DOI: 10.1371/journal.pone.0000989.
  7. Eisenberg ML, Betts P, Herder D, et al. Increased risk of cancer among azoospermic men. Fertil Steril 2013;100(3):681–685. DOI: 10.1016/j.fertnstert.2013.05.022.
  8. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16(3):1215. DOI: 10.1093/nar/16.3.1215.
  9. Lu WJ, Chapo J, Roig I, et al. Meiotic recombination provokes functional activation of the p53 regulatory network. Science 2010;328(5983):1278–1281. DOI: 10.1126/science.1185640.
  10. Kang H-J, Feng Z, Sun Y, et al. Single-nucleotide polymorphisms in the p53 pathway regulate fertility in humans. Proc Natl Acad Sci U S A 2009;106(24):9761–9766. DOI: 10.1073/pnas.0904280106.
  11. Levine AJ. P53, the cellular gatekeeper for growth and division. Cell 1997;88(3):323–331. DOI: 10.1016/s0092-8674(00)81871-1.
  12. Pietsch EC, Humbey O, Murphy ME. Polymorphisms in the p53 pathway. Oncogene 2006;25(11):1602–1611. DOI: 10.1038/sj.onc.1209367.
  13. Levine AJ, Hu W, Feng Z. The P53 pathway: what questions remain to be explored? Cell Death Differentiat 2006;13(6):1027–1036. DOI: 10.1038/sj.cdd.4401910.
  14. Kay C, Jeyendran RS, Coulam CB. p53 tumour suppressor gene polymorphism is associated with recurrent implantation failure. Reprod Biomed Online 2006;13(4):492–496. DOI: 10.1016/s1472-6483(10)60635-9.
  15. Li J, Chen Y, Mo Z, et al. TP53 Arg72Pro polymorphism (rs1042522) and risk of endometriosis among Asian and Caucasian populations. Eur J Obstet Gynecol Reprod Biol 2015;189:73–78. DOI: 10.1016/j.ejogrb.2015.03.026.
  16. Bonfigli AR, Sirolla C, Testa R, et al. The p53 codon 72 (Arg72Pro) polymorphism is associated with the degree of insulin resistance in type 2 diabetic subjects: a cross-sectional study. Acta Diabetol 2013;50(3):429–436. DOI: 10.1007/s00592-012-0450-x.
  17. Dumont P, Leu JIJ, Della Pietra AC, et al. The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet 2003;33(3):357–365. DOI: 10.1038/ng1093.
  18. Bond GL, Hu W, Bond EE, et al. A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 2004;119(5):591–602. DOI: 10.1016/j.cell.2004.11.022.
  19. Bergamaschi D, Samuels Y, Sullivan A, et al. iASPP preferentially binds p53 proline-rich region and modulates apoptotic function of codon 72-polymorphic p53. Nat Genet 2006;38(10):1133–1141. DOI: 10.1038/ng1879.
  20. Huang C, Liu W, Ji GX, et al. Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population. Asian J Androl 2012;14(5):691–694. DOI: 10.1038/aja.2012.39.
  21. Mashayekhi F, Hadiyan SP. A single-nucleotide polymorphism in TP53 may be a genetic risk factor for Iranian patients with idiopathic male infertility. Andrologia 2012;44(Suppl 1):560–564. DOI: 10.1111/j.1439-0272.2011.01227.x.
  22. Chan Y, Jiang H, Ma L, et al. No association of TP53 codon 72 SNP with male infertility: a study in a Chinese population and a meta-analysis. Syst Biol Reprod Med 2015;61(4):222–227. DOI: 10.3109/19396368.2015.1017667.
  23. Jin Q, Wang B, Wang J, et al. Erratum: association between TP53 gene Arg72Pro polymorphism and idiopathic infertility in southeast Chinese Han males. Syst Biol Reprod Med 2013;59(6):342–346. Systems Biology in Reproductive Medicine. 2014.
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