Polymorphisms in DNA repair genes (APEX1, XPD, XRCC1 and XRCC3) and risk of preeclampsia in a Mexican mestizo population

• Published in: International journal of molecular sciences Vol. 15; no. 3; pp. 4273 - 4283
• Main Authors: Sandoval-Carrillo, Ada, Méndez-Hernández, Edna M, Vazquez-Alaniz, Fernando, Aguilar-Durán, Marisela, Téllez-Valencia, Alfredo, Barraza-Salas, Marcelo, Castellanos-Juárez, Francisco X, Llave-León, Osmel La, Salas-Pacheco, José M
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 11.03.2014; Molecular Diversity Preservation International (MDPI)
• Subjects: Adolescent; Adult; APEX1; Case-Control Studies; Chi-Square Distribution; DNA repair; DNA Repair - genetics; DNA-(Apurinic or Apyrimidinic Site) Lyase - genetics; DNA-Binding Proteins - genetics; Female; Gene Frequency; Genes; Genetic Predisposition to Disease - genetics; Genotype; Humans; Logistic Models; Mexico; Odds Ratio; Polymorphism; Polymorphism, Single Nucleotide; polymorphisms; Pre-Eclampsia - genetics; Pre-Eclampsia - pathology; Preeclampsia; Pregnancy; Risk Factors; Severity of Illness Index; X-ray Repair Cross Complementing Protein 1; Xeroderma Pigmentosum Group D Protein - genetics; XPD; XRCC1; XRCC3; Young Adult; Mexico
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms15034273

Variations in genes involved in DNA repair systems have been proposed as risk factors for the development of preeclampsia (PE). We conducted a case-control study to investigate the association of Human apurinic/apyrimidinic (AP) endonuclease (APEX1) Asp148Glu (rs1130409), Xeroderma Pigmentosum group D (XPD) Lys751Gln (rs13181), X-ray repair cross-complementing group 1 (XRCC) Arg399Gln (rs25487) and X-ray repair cross-complementing group 3 (XRCC3) Thr241Met (rs861539) polymorphisms with PE in a Mexican population. Samples of 202 cases and 350 controls were genotyped using RTPCR. Association analyses based on a χ2 test and binary logistic regression were performed to determine the odds ratio (OR) and a 95% confidence interval (95% CI) for each polymorphism. The allelic frequencies of APEX1 Asp148Glu polymorphism showed statistical significant differences between preeclamptic and normal women (p = 0.036). Although neither of the polymorphisms proved to be a risk factor for the disease, the APEX1 Asp148Glu polymorphism showed a tendency of association (OR: 1.74, 95% CI = 0.96-3.14) and a significant trend (p for trend = 0.048). A subgroup analyses revealed differences in the allelic frequencies of APEX1 Asp148Glu polymorphism between women with mild preeclampsia and severe preeclampsia (p = 0.035). In conclusion, our results reveal no association between XPD Lys751Gln, XRCC Arg399Gln and XRCC3 Thr241Met polymorphisms and the risk of PE in a Mexican mestizo population; however, the results in the APEX1 Asp148Glu polymorphism suggest the need for future studies using a larger sample size.