Results
| PMID | 17931634 |
| Gene Name | PTPN22 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | Arg/Arg genotype of p53 codon 72 |
| Population size | 276 |
| Population details | 276 (129 women with endometriosis, 147 controls) |
| Sex | Female |
| Associated genes | p53, PTPN22 |
| Other associated phenotypes |
Endometriosis |
|
Fertil Steril. 2008 Aug;90(2):406-8. Epub 2007 Oct 10. Ammendola, Maria| Gloria-Bottini, Fulvia| Sesti, Francesco| Piccione, Emilio| Bottini, Egidio Division of Obstetrics and Gynecology, Department of Surgery, University of Rome Tor Vergata, School of Medicine, Rome, Italy. OBJECTIVE: To study the association of endometriosis with p53 codon 72 polymorphism in the population of central Italy and to search for possible interaction with the PTPN22 polymorphism. DESIGN: Study of p53 and PTPN22 polymorphisms in women with endometriosis. Analysis of PTPN22 genotype distribution in relation to p53 genotypes. SETTING: Department of Obstetrics and Gynecology of the University of Rome "Tor Vergata." PATIENT(S): The study included 129 women with endometriosis and 147 controls from the Caucasian population of central Italy. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Evaluation of risk for endometriosis. RESULT(S): No significant difference in the distribution of p53 codon 72 genotypes was observed between endometriosis patients and controls. An interaction between p53 and PTPN22 was observed: a protective action by the Arg/Arg genotype against endometriosis seems to be present only in carriers of the ( *)T allele of PTPN22. CONCLUSION(S): The negative association between the Arg/Arg genotype of p53 codon 72 found in Chinese people has not been observed in Japanese and Italian populations. Interaction with genes showing different allele frequencies among ethnic groups could be responsible for the differences reported among human populations concerning the relationship between p53 and susceptibility to endometriosis. Mesh Terms: Codon| Endometriosis/*genetics| European Continental Ancestry Group/genetics| Female| Humans| Infant, Newborn| Italy| Polymorphism, Genetic| Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics| Tumor Suppressor Protein p53/*genetics|DA 20 |
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