P53 codon 11, 72, and 248 gene polymorphisms in endometriosis

Yao-Yuan Hsieh, Yao‐Yuan Hsieh, Chich-Sheng Lin
International journal of biological sciences · 2006 · vol. 2(4) , pp. 188–193 · doi:10.7150/ijbs.2.188 · PMID:16896365 · W2029373636
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⚙ AI-generated summary by claude@2026-06, 2026-06-09 ⓘ

This study found an association between endometriosis and p53 codon 72 polymorphisms, with the *Pro allele linked to higher susceptibility, while codon 11 and 248 polymorphisms showed no relation.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-09 ⓘ

This Taiwanese case-control study evaluated whether p53 gene polymorphisms at codons 11, 72, and 248 are associated with endometriosis by genotyping women with moderate/severe surgically and histologically confirmed endometriosis (n=148) and women without endometriosis (n=150) using PCR followed by restriction enzyme digestion and electrophoresis. The distributions of p53 codon 72 (Arg72/Pro72) genotypes differed significantly between groups, with a higher frequency of Pro-related genotypes and alleles in the endometriosis group, while codon 11 and codon 248 polymorphisms showed no significant differences; notably, all participants had wild genotypes at these two loci. A major limitation stated in the paper is the lack of observed variants for codon 11 and 248 (all individuals were wild type), which constrains the ability to detect associations for those polymorphisms. This paper is centrally about endometriosis — it tests p53 codon 72 (and also codon 11/248) polymorphisms for association with endometriosis susceptibility.

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Abstract

OBJECTIVE: Mutated p53 gene is related to the instability of cell growth and cell cycle progression. We aimed to evaluate the association between endometriosis and p53 codon 11, 72 and 248 gene polymorphisms. PATIENTS AND METHODS: Women were divided into two groups: (1) moderate/severe endometriosis (n=148), and (2) non-endometriosis groups (n=150). P53 gene polymorphisms include codon11 Glu/Gln or Lys (GAG->CAG or AAG), codon 72 Arg/Pro (CGC->CCC), and codon 248 Arg/Thr (CGG->TCG). These gene polymorphisms were amplified by polymerase chain reaction and detected by electrophoresis after restriction enzyme (Taq I, BstU I, Hap II) digestions. Associations between the endometriosis and p53 polymorphisms were evaluated. RESULTS: The distributions of p53 codon 72 polymorphisms in both groups were significantly different. The proportions of Arg homozygotes/heterozygotes/Pro homozygotes in both groups were 9.5/66.2/24.3% and 30.7/50/19.3%. The proportions of Arg/Pro alleles were 42.6/57.4% and 56/44%. The distributions of p53 codon 11 and 248 polymorphisms in both groups were non-significantly different. All individuals appeared the wild genotypes (Glu11 and Arg248 homozygotes). CONCLUSION: Association between endometriosis and p53 codon 72 polymorphism exists. P53 codon 72*Pro-related genotype and allele are related with higher susceptibility of endometriosis. P53 codon 11 and 248 polymorphisms are not related with endometriosis susceptibility.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Codon Endometriosis Polymorphism, Genetic Polymorphism, Single Nucleotide Tumor Suppressor Protein p53 Arginine Arginine Codon DNA DNA DNA DNA DNA Primers Endometriosis Endometriosis Female Humans Lysine Lysine Premenopause

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