Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com Original Article Gynecol Obstet Invest 2012;73:118–123 DOI: 10.1159/000330702 The TP53 16-bp Duplication Polymorphism Is Enriched in Endometriosis Patients M.P. Gallegos-Arreola a L.E. Valencia-Rodríguez c A.M. Puebla-Pérez e L.E. Figuera d G.M. Zúñiga-González b Laboratorios de a Genética Molecular y b Mutagénesis, División de Medicina Molecular, y c División de Genética, Centro de Investigación Biomédica de Occidente, UMAE, d Hospital de Gineco-Obstetricia, Centro Médico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social, y e Laboratorio de Inmunofarmacología, CUCEI, UdeG, Guadalajara, México patients with moderate/severe endometriosis, the OR was 4.0 (95% CI 1.6–9.8; p = 0.003). Conclusion: Our data suggest that the 16-bp duplication polymorphism in TP53 contrib- utes significantly to endometriosis susceptibility in the Mex- ican population. Copyright © 2012 S. Karger AG, Basel Introduction Endometriosis is a condition characterized by the presence of endometrial glands and stroma outside of the uterine cavity [1]. Implantation of ectopic endometrial tissue causes functional impairment and infertility in 10– 15% [2] of women of reproductive age (15–44 years) [3]. Although endometriosis is a benign gynecological con- dition; it is a difficult clinical problem because the asso- ciated symptoms and reproductive impairment affect patient’s quality of life [4]. It is estimated that there are millions of symptomatic women who are affected by en- dometriosis and millions more who are asymptomatic [5, 6]. Diagnosis of endometriosis is difficult because it re- quires direct observation of damage, either intentionally by laparoscopy or during an unrelated surgical procedure [7, 8]. Therefore, the basic epidemiology of endometriosis Key Words TP53  Polymorphism  16-bp duplication  Endometriosis  Mexican population Abstract Background/Aim: The TP53 tumor suppressor gene en- codes the nuclear phosphoprotein p53, which plays an im- portant role in cell cycle regulation, apoptosis, DNA repair and angiogenesis. The TP53 gene contains common genetic polymorphisms that influence gene activity. Clinical implica- tions of TP53 polymorphisms have been reported for several diseases, including a variety of solid tumors and endome- triosis. We evaluated the association of a TP53 duplication polymorphism with endometriosis. Methods: We evaluated the role of the TP53 16-bp duplication polymorphism by comparing the genotypes of 204 healthy women (controls with surgically excluded endometriosis) to the genotypes of 151 women with endometriosis in the Mexican population. Results: The observed genotype frequencies for controls and endometriosis patients were 0.5 and 5% for 16 bp+/+, 11 and 21% for 16 bp+/–, and 88.5 and 77% for 16 bp–/–, respec- tively. The odds ratio (OR) was 9.8 (95% CI 1.2–446.8; p = 0.01). The association was more evident when we compared the distribution of genotype 16 bp+/+ to genotype 16 bp+/–. In Received: February 1, 2011 Accepted after revision: June 15, 2011 Published online: February 17, 2012 Dr. Martha Patricia Gallegos-Arreola División de Medicina Molecular CIBO, IMSS Sierra Mojada No. 800, Col. Independencia Guadalajara, Jalisco 44340 (México) Tel. +52 33 3617 0060, E-Mail patrici0803  @  yahoo.com.mx © 2012 S. Karger AG, Basel 0378–7346/12/0732–0118$38.00/0 Accessible online at: www.karger.com/goi Downloaded by: University of Pennsylvania 165.123.34.86 - 4/14/2015 9:40:11 PM