Results
| PMID | 22784258 |
| Gene Name | TP53 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | R72P |
| Population size | 1220 |
| Population details | 1220 (720 endometriosis patients, 500 controls) |
| Sex | Female |
| Associated genes | p53 |
| Other associated phenotypes |
Endometriosis |
|
Genet Test Mol Biomarkers. 2012 Aug;16(8):865-73. doi: 10.1089/gtmb.2011.0295. Govatati, Suresh| Chakravarty, Baidyanath| Deenadayal, Mamata| Kodati, Vijaya Lakshmi| Manolla, Madhavi Latha| Sisinthy, Shivaji| Bhanoori, Manjula Department of Biochemistry, Osmania University, Hyderabad, India. AIM: To investigate the role of loss of heterozygosity (LOH), single nucleotide polymorphisms (SNPs), and the expression of gene p53 in the pathogenesis of endometriosis. METHODS: LOH at the p53 gene locus (17p13.1) was examined in matched ectopic and eutopic endometrial tissues from 31 endometriosis patients by polymerase chain reaction (PCR)-GeneScan analysis. The genotyping of selected p53 SNPs (n=10) was carried out on genomic DNA of blood from endometriosis patients (n=720) and controls (n=500) by PCR sequencing. The p53 expression levels were analyzed in the endometrial tissues from endometriosis patients (n=5) and controls (n=4) by Western blot and immunohistochemical analysis. RESULTS: LOH was observed at the 17p13.1 locus (38.7%) in the ectopic endometrium but not in the eutopic endometrium of patients. The genotype (p=0.909) and allele (p=0.729) distribution of the p53 codon Arg72Pro polymorphism was not significantly different between patients and controls. The polymorphism was not observed at codon 47 along the other SNPs studied. There was no preferential loss of either "Arg72" or "Pro72" alleles among the LOH-positive heterozygous cases. In addition, decreased p53 expression was observed more often in the endometrium of patients than in controls. CONCLUSIONS: p53 SNPs are not associated with endometriosis in Indian women. However, LOH and reduced expression of p53 are related with the risk of endometriosis in Indian women. Mesh Terms: Blotting, Western| Chromosomes, Human, Pair 17| DNA Primers| Endometriosis/*genetics| Female| *Genes, p53| *Genetic Predisposition to Disease| Humans| Immunohistochemistry| India| Loss of Heterozygosity| Polymerase Chain Reaction| Risk Factors |
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