Cardoso Jéssica V, Machado Daniel E, da Silva Mayara C, Berardo Plínio T, Ferrari Renato, Abrão Maurício S, Perini Jamila A
Programa de Pós-guaduação em Saúde Pública e Meio Ambiente, Escola Nacional de Saúde Pública, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brazil.
Laboratório de Pesquisa de Ciências Farmacêuticas, Unidade de Farmácia, Centro Universitário Estadual da Zona Oeste, Rio de Janeiro, RJ, Brazil.
Eur J Obstet Gynecol Reprod Biol X. 2019 May 6;3:100041. doi: 10.1016/j.eurox.2019.100041. eCollection 2019 Jul.
Endometriosis has a complex and multifactorial pathology, and it is considered one of the main causes of infertility nowadays. The angiogenic process, which involves remodeling of extracellular matrix, is crucial for the development of this disease, mainly by the action of the matrix metalloproteinase 3 (MMP-3). It is known that genetic factors can influence endometriosis, thus; we investigated the role of polymorphism as a risk factor for the development of the disease and its symptoms.
This case-control study included 283 women with endometriosis (cases) and 217 women without the disease (controls) who were submitted to laparoscopic or laparotomy surgery. Real-time polymerase chain reaction performed by system was applied for all polymorphisms. A multivariate logistic regression was performed to evaluate the association between polymorphism and endometriosis or clinical and gynecological characteristics of the disease, using their respective odds ratios (OR) and 95% confidence intervals (CI).
The allelic frequency of the polymorphism was 33.6% in controls and 40.3% in endometriosis cases. The allelic distribution was significantly different between the two ( = 0.03). The variant genotype of was associated with increased endometriosis risk in the advanced endometriosis cases (OR: 2.08, 95% CI: 1.05 - 4.07 and OR: 1.87, 95% CI: 1.01 - 3.45). Regarding the symptoms, endometriosis-related infertile women had a positive association with the presence of polymorphism (OR: 3.13, 95% CI: 1.08-9.08 and OR: 3.30, 95% CI: 1.31 - 8.33).
These findings suggest that the polymorphism is involved with advanced endometriosis cases and infertility, and these associations may implicate in the behavior of disease.
子宫内膜异位症具有复杂的多因素病理机制，被认为是当今不孕症的主要原因之一。血管生成过程涉及细胞外基质重塑，对该疾病的发展至关重要，主要通过基质金属蛋白酶3（MMP - 3）的作用。已知遗传因素可影响子宫内膜异位症，因此，我们研究了基因多态性作为该疾病及其症状发生风险因素的作用。
本病例对照研究纳入了283例患有子宫内膜异位症的女性（病例组）和217例未患该病的女性（对照组），她们均接受了腹腔镜或剖腹手术。使用系统进行实时聚合酶链反应检测所有多态性。进行多因素逻辑回归分析，以评估多态性与子宫内膜异位症或该疾病的临床和妇科特征之间的关联，采用各自的优势比（OR）和95%置信区间（CI）。
对照组中该多态性的等位基因频率为33.6%，子宫内膜异位症病例组为40.3%。两组之间的等位基因分布存在显著差异（P = 0.03）。在晚期子宫内膜异位症病例中，该多态性的变异基因型与子宫内膜异位症风险增加相关（OR：2.08，95% CI：1.05 - 4.07和OR：1.87，95% CI：1.01 - 3.45）。关于症状，与子宫内膜异位症相关的不孕女性与该多态性的存在呈正相关（OR：3.13，95% CI：1.08 - 9.08和OR：3.30，95% CI：1.31 - 8.33）。
这些发现表明该多态性与晚期子宫内膜异位症病例和不孕症有关，这些关联可能与疾病行为有关。
