Association of p53 and CDKN1A genotypes with endometriosis
Observational
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⤵ 15 in-corpus citations
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This study investigated p53 and CDKN1A polymorphisms in a Taiwanese population, finding that the p53 codon 72 C (Pro) allele is associated with an increased risk of endometriosis.
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Abstract
BACKGROUND: The tumor suppressor p53 protein plays a critical role in different cellular processes in response to DNA damage and it is responsible for transcriptional induction of the p21 (CDKN1A/WAF1/CIP1) gene. Both p53 and p21 are thought to play major roles in the development of human malignancy. Polymorphic variants of p53 at codon 72, and CDKN1A at codon 31, have been found to be associated with cancer susceptibility, but few studies have investigated their effect on endometriosis risk.
MATERIALS AND METHODS: In this hospital-based case-control study, we investigated the association of p53 codon 72 and CDKN1A codon 31 polymorphisms with endometriosis susceptibility in a Taiwanese population. In total, 180 patients with endometriosis, and 330 age-matched controls in Central Taiwan were recruited and genotyped.
RESULTS: We found a significant difference in the distribution of the p53 genotype, but not the CDKN1A genotype, between the endometriosis and control groups. Individuals with the C (Pro) allele at p53 codon 72 had a 1.6-fold increased odds ratio of endometriosis, and those with Arg/Pro and Pro/Pro genotypes for p53 codon 72 had a 1.84- and 2.74-fold (95% confidence interval=1.17-2.92 and 1.58-4.74) increased risk of endometriosis compared to those with Arg/Arg, respectively. The distribution of haplotype combinations of p53 codon 72 and CDKN1A codon 31 was statistically different in the endometriosis and control groups. The percentages of the three subgroups with p53 CC homozygote were all higher in the endometriosis group than in the control group.
CONCLUSION: Our findings suggest that the C (Pro) allele of p53 codon 72 may be associated with the development of endometriosis, and could serve as a potential biomarker for early prediction of this disease.
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Cited by (15)
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- Artificial Intelligence Based Study Association between p53 Gene Polymorphism and Endometriosis: A Systematic Review and Meta-analysis 2022
- Differential Expression of KRAS and SIRT1 in Ovarian Cancers with and Without Endometriosis 2020
- Polymorphisms and endometriosis: a systematic review and meta-analyses 2019
- A potential role of cyclin-dependent kinase inhibitor 1 (p21/WAF1) in the pathogenesis of endometriosis: Directions for future research 2019
- How Benign is Endometriosis: Multi-Scale Interrogation of Documented Evidence 2019
- The impact of infertility diagnosis on embryo-endometrial dialogue 2018
- Integrative Analysis Reveals Regulatory Programs in Endometriosis 2015
- Meta-analysis of association between the TP53 Arg72Pro polymorphism and risk of endometriosis based on case-control studies 2015
- TP53 Arg72Pro polymorphism (rs1042522) and risk of endometriosis among Asian and Caucasian populations 2015
- p53 Arg72Pro polymorphism confers the susceptibility to endometriosis among Asian and Caucasian populations 2015
- The codon 72 polymorphism of the TP53 gene and endometriosis risk: a meta-analysis 2015
- A meta-analysis of the association between p53 codon 72 polymorphism and susceptibility to endometriosis 2014
- Understanding the role of epigenomic, genomic and genetic alterations in the development of endometriosis (review) 2014
- Insights into Assessing the Genetics of Endometriosis 2012
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- europepmc
- last seen: 2026-10-19T06:17:24.038039+00:00
- openalex
- last seen: 2026-06-04T00:00:01.174412+00:00
- pubmed
- last seen: 2026-10-08T21:09:44.076416+00:00
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