Importance of xeroderma pigmentosum group D polymorphisms in susceptibility to ...

• Author(s): Costa, Sandra Maria Araújo da ; Pinto, Daniela ; Pereira, Deolinda ; Vasconcelos, André ; Lopes, Carlos Afonso ; Osório, Teresa ; Lopes, Carlos ; Medeiros, Rui
• Date: 2007
• Persistent ID: http://hdl.handle.net/1822/5746
• Origin: RepositóriUM - Universidade do Minho
• Subject(s): XPD; DNA repair; NER; Ovarian cancer; Polymorphisms
• Document Type: Article
• Language: English

Description

The purpose of this study was to evaluate the role of XPD genotypes as genetic indicator of susceptibility to ovarian cancer. We have used a case–control study. We analysed DNA samples from 141 ovarian cancer patients and 202 control subjects, for three XPD polymorphisms using PCR-RFLP. We observed that Asn312Asn XPD genotype carriers have increased susceptibility of ovarian cancer (ORZ2.46 95% CI 1.20–5.06; PZ0.015). Furthermore, we found that carriers of Gln751Gln XPD genotype have an increased susceptibility of ovarian cancer (ORZ3.40 95% CI 1.61–7.15; PZ0.001). Asn312Asn and Gln751Gln are particularly associated with an early-stage of disease. Our results suggest an important role for Asn312Asn and Gln751Gln XPD polymorphisms in the susceptibility to ovarian cancer.