Cardoso Jéssica Vilarinho, Machado Daniel Escorsim, Ferrari Renato, Silva Mayara Calixto da, Berardo Plínio Tostes, Perini Jamila Alessandra
Research Laboratory of Pharmaceutical Sciences, Pharmacy Unit, Centro Universitário Estadual da Zona Oeste, Rio de Janeiro, Rio de Janeiro, Brazil.
Post-graduation in Public Health and Natural Environment Program, Escola Nacional de Saúde Pública Sergio Arouca, Fundação Oswaldo Cruz (National School of Public Health, Oswaldo Cruz Foundation), Rio de Janeiro, Rio de Janeiro, Brazil.
Rev Bras Ginecol Obstet. 2017 Jun;39(6):273-281. doi: 10.1055/s-0037-1604097. Epub 2017 Jun 14.
To evaluate the magnitude of the association of the polymorphisms of the genes and in the development of endometriosis. This is a retrospective case-control study involving 161 women with endometriosis (cases) and 179 controls. The polymorphisms were genotyped by real-time polymerase chain reaction using the TaqMan system. The association of the polymorphisms with endometriosis was evaluated using the multivariate logistic regression. The endometriosis patients were significantly younger than the controls (36.0 ± 7.3 versus 38.0 ± 8.5 respectively, = 0.023), and they had a lower body mass index (26.3 ± 4.8 versus 27.9 ± 5.7 respectively, = 0.006), higher average duration of the menstrual flow (7.4 ± 4.9 versus 6.1 ± 4.4 days respectively, = 0.03), and lower average time intervals between menstrual periods (25.2 ± 9.6 versus 27.5 ± 11.1 days respectively, = 0.05). A higher prevalence of symptoms of dysmenorrhea, dyspareunia, chronic pelvic pain, infertility and intestinal or urinary changes was observed in the case group when compared with the control group. The interval between the onset of symptoms and the definitive diagnosis of endometriosis was 5.2 ± 6.9 years. When comparing both groups, significant differences were not observed in the allelic and genotypic frequencies of the polymorphisms , and , even when considering the symptoms, classification and stage of the endometriosis. The combined genotype / is positively associated with endometriosis (odds ratio [OR] = 1.72; 95% confidence interval [95%CI] = 1.09-2.72). The combined analysis of the polymorphisms suggests a gene-gene interaction in the susceptibility to endometriosis. These results may contribute to the identification of biomarkers for the diagnosis and/or prognosis of the disease and of possible molecular targets for individualized treatments.
评估基因多态性与子宫内膜异位症发生之间关联的程度。 这是一项回顾性病例对照研究，涉及161例子宫内膜异位症患者（病例组）和179例对照。使用TaqMan系统通过实时聚合酶链反应对多态性进行基因分型。使用多变量逻辑回归评估多态性与子宫内膜异位症的关联。 子宫内膜异位症患者明显比对照组年轻（分别为36.0±7.3岁和38.0±8.5岁，P = 0.023），且其体重指数较低（分别为26.3±4.8和27.9±5.7，P = 0.006），月经持续时间平均值较高（分别为7.4±4.9天和6.1±4.4天，P = 0.03），月经周期平均间隔时间较短（分别为25.2±9.6天和27.5±11.1天，P = 0.05）。与对照组相比，病例组中痛经、性交困难、慢性盆腔疼痛、不孕以及肠道或泌尿系统改变症状的患病率更高。症状出现至子宫内膜异位症确诊的间隔时间为5.2±6.9年。比较两组时，即使考虑子宫内膜异位症的症状、分类和分期，在多态性……的等位基因和基因型频率方面也未观察到显著差异。联合基因型……与子宫内膜异位症呈正相关（优势比[OR] = 1.72；95%置信区间[95%CI] = 1.09 - 2.72）。 多态性的联合分析表明在子宫内膜异位症易感性方面存在基因 - 基因相互作用。这些结果可能有助于识别该疾病诊断和/或预后的生物标志物以及个体化治疗的可能分子靶点。
