白细胞介素-17A 基因的 rs2275913 多态性与卵巢子宫内膜异位症的风险相关。

Department of Obstetrics and Gynaecology, Xingtai People's Hospital, Xingtai, China.

Department of Emergency, Xingtai People's Hospital, Xingtai, China.

J Obstet Gynaecol. 2023 Dec;43(1):2199852. doi: 10.1080/01443615.2023.2199852.

The aim of this study was to explore the relationship between two genetic variants (rs2275913 and rs3748067) of interleukin-17A () and the risk of ovarian endometriosis in northern Chinese women. This study was performed in 316 patients with ovarian endometriosis and 328 female control subjects. The genotypes of the two polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The mRNA expression of was detected by quantitative real-time PCR (qRT-PCR). There was a significant difference in the genotype distributions of the rs2275913 polymorphism between the patients and control subjects ( = .006). Compared with the GG genotype of rs2275913, the AA genotype was correlated with a higher susceptibility to the development of ovarian endometriosis (OR = 2.28, 95% confidence interval (CI) = 1.37-3.80). Furthermore, the levels of mRNA were higher in the ectopic endometrium from ovarian endometriosis patients carrying the rs2275913 AA genotype than in those carrying the rs2275913 GG genotype ( = .007). This study suggested that the rs2275913 polymorphism at the promoter region of may be a functional genetic variant, and the rs2275913 AA genotype is associated with a higher risk of developing ovarian endometriosis in northern Chinese women.IMPACT STATEMENT Interleukin-17A (IL-17A) is a crucial proinflammatory and angiogenic cytokine that has been shown to participate in the pathogenesis of chronic inflammatory and autoimmune diseases. Genetic variants in may alter the expression of the IL-17A, and are associated with the susceptibility to a wide range of human diseases. This study suggested that the rs2275913 polymorphism at the promoter region of may be a functional genetic variant that affects the expression of mRNA in ectopic endometrial tissues. The AA genotype of rs2275913 was associated with a higher risk of developing ovarian endometriosis in northern Chinese women. IL-17A may be a potential biomarker for early diagnosis and gene-targeted therapy of ovarian endometriosis.

本研究旨在探讨白细胞介素-17A（IL-17A）的两个遗传变异（rs2275913 和 rs3748067）与中国北方女性卵巢子宫内膜异位症风险之间的关系。该研究纳入了 316 例卵巢子宫内膜异位症患者和 328 名女性对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测两种多态性的基因型。通过实时荧光定量 PCR（qRT-PCR）检测的 mRNA 表达。患者与对照组 rs2275913 多态性的基因型分布存在显著差异（ = .006）。与 rs2275913 的 GG 基因型相比，AA 基因型与卵巢子宫内膜异位症的发病易感性增加相关（OR = 2.28，95%置信区间（CI） = 1.37-3.80）。此外，携带 rs2275913 AA 基因型的卵巢子宫内膜异位症患者的异位内膜中 mRNA 水平高于携带 rs2275913 GG 基因型的患者（ = .007）。本研究表明，位于启动子区域的 rs2275913 多态性可能是一个功能性遗传变异，rs2275913 AA 基因型与中国北方女性卵巢子宫内膜异位症的发病风险增加相关。

意义陈述：白细胞介素-17A（IL-17A）是一种关键的促炎和血管生成细胞因子，已被证明参与了慢性炎症和自身免疫性疾病的发病机制。位于的遗传变异可能改变 IL-17A 的表达，并与广泛的人类疾病的易感性相关。本研究表明，位于启动子区域的 rs2275913 多态性可能是一个功能性遗传变异，影响异位内膜组织中 mRNA 的表达。rs2275913 的 AA 基因型与中国北方女性卵巢子宫内膜异位症的发病风险增加相关。IL-17A 可能是卵巢子宫内膜异位症早期诊断和基因靶向治疗的潜在生物标志物。