Cardoso Jéssica Vilarinho, Machado Daniel Escorsim, de Almeida Fernanda Nunes, Berardo Plínio Tostes, Medeiros Rui, Perini Jamila Alessandra
Universidade do Estado do Rio de Janeiro Rio de JaneiroRJ Brazil Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Fundação Oswaldo Cruz Escola Nacional de Saúde Pública Sergio Arouca Rio de JaneiroRJ Brazil Escola Nacional de Saúde Pública Sergio Arouca, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brazil.
Rev Bras Ginecol Obstet. 2025 Jul 15;47. doi: 10.61622/rbgo/2025rbgo43. eCollection 2025.
Endometriosis pain is associated with inflammatory cytokines, such as leptin (LEP), through activation with its receptor (LEPR), and its expression can be influenced by the presence of genetic polymorphisms. Therefore, this study aims to evaluate the role of the rs7799039 and rs1137100 polymorphisms in the painful symptoms of endometriosis in Brazilian women.
A retrospective study was carried out in two Brazilian public hospitals with 237 cases of endometriosis, divided into two comparison groups according to the painful symptoms associated with the disease (absence or presence of severe and disabling symptoms). Genetic analysis was performed by real-time PCR technique, and association analyses were estimated using odds ratio (OR) and 95% confidence interval (CI), using a non-conditional logistic regression model.
Endometriosis cases showed a high prevalence of painful symptoms: 82% dysmenorrhea, 67% dyspareunia, 53% chronic pelvic pain, and 52% cyclical intestinal and 25% urinary complaints. Regarding genetic analyses, cases had 32.7% of the A allele and 11.4% of the AA genotype for the rs7799039 G>A SNP, and 17.5% of the G allele and 2.5% for of GG genotype for the rs1137100 A>G SNP. There is a significant association of the rs1137100 polymorphism with chronic pelvic pain (OR=1.75; CI 95%=1.05-2.89) and dyspareunia (OR=1.78; CI 95%=1.01-3.12) in women with endometriosis.
Our findings suggest that the rs1137100 polymorphism is associated with increased endometriosis-related gynecological pain and may be a potential target for molecular diagnosis of the disease and development of individualized treatment strategies.
子宫内膜异位症疼痛与炎症细胞因子有关，如瘦素（LEP），通过其受体（LEPR）激活，其表达可受基因多态性的影响。因此，本研究旨在评估rs7799039和rs1137100多态性在巴西女性子宫内膜异位症疼痛症状中的作用。
在巴西两家公立医院进行了一项回顾性研究，纳入237例子宫内膜异位症患者，根据与疾病相关的疼痛症状（有无严重且致残症状）分为两个比较组。采用实时PCR技术进行基因分析，并使用非条件逻辑回归模型，通过比值比（OR）和95%置信区间（CI）进行关联分析。
子宫内膜异位症患者疼痛症状的患病率较高：痛经82%，性交困难67%，慢性盆腔疼痛53%，周期性肠道症状52%，泌尿系统症状25%。关于基因分析，rs7799039 G>A单核苷酸多态性（SNP）中，病例组A等位基因频率为32.7%，AA基因型频率为11.4%；rs
