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Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
P53 codon 11, 72, and 248 gene polymorphisms in endometriosis
Yao-Yuan Hsieh1, Chich-Sheng Lin
1Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan.
International Journal of Biological Sciences
|August 10, 2006
Summary
Endometriosis risk is linked to p53 codon 72 gene variations. The p53 codon 72*Pro genotype and allele increase susceptibility to endometriosis, while other p53 gene polymorphisms show no association.
Area of Science:
- Genetics
- Reproductive Medicine
- Molecular Biology
Background:
- The p53 tumor suppressor gene plays a critical role in maintaining genomic stability by regulating cell growth and cell cycle progression.
- Mutations or polymorphisms in the p53 gene have been implicated in various diseases, including cancer and potentially other conditions affecting cell proliferation.
- Endometriosis, a complex gynecological disorder, is characterized by the growth of endometrial-like tissue outside the uterus, often associated with inflammation and hormonal imbalances.
Purpose of the Study:
- To investigate the potential association between specific polymorphisms in the p53 gene (at codons 11, 72, and 248) and the risk of developing endometriosis.
- To determine if variations in the p53 gene influence the susceptibility to moderate to severe endometriosis.
Main Methods:
- A case-control study was conducted with 148 women diagnosed with moderate/severe endometriosis and 150 women without endometriosis.
- Genotyping of p53 gene polymorphisms at codon 11 (Glu/Gln/Lys), codon 72 (Arg/Pro), and codon 248 (Arg/Thr) was performed using polymerase chain reaction (PCR) followed by restriction enzyme digestion and electrophoresis.
- Statistical analysis was employed to evaluate the association between p53 gene polymorphisms and endometriosis status.
Main Results:
- A statistically significant difference in the distribution of p53 codon 72 polymorphisms was observed between the endometriosis and control groups.
- The p53 codon 72*Pro allele and related genotypes were found to be more prevalent in women with endometriosis, suggesting increased susceptibility.
- No significant differences in the distribution of p53 codon 11 and codon 248 polymorphisms were found between the two groups. All participants exhibited wild-type genotypes for codons 11 and 248.
Conclusions:
- The p53 codon 72 polymorphism is associated with endometriosis risk.
- The p53 codon 72*Pro genotype and allele are linked to a higher susceptibility to developing endometriosis.
- Polymorphisms at p53 codons 11 and 248 do not appear to be associated with endometriosis susceptibility.
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