Smolarz Beata, Romanowicz Hanna
Laboratory of Cancer Genetics, Department of Pathology, Polish Mother's Memorial Hospital Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland.
Arch Gynecol Obstet. 2021 Aug;304(2):439-445. doi: 10.1007/s00404-021-06051-5. Epub 2021 Apr 7.
Endometriosis is a frequent gynaecological condition, both in Poland and in the world. The development of this disease is supported by hormonal, immunological and environmental factors. During the recent years, a particular attention has been focused on the genetic polymorphisms which may be of particular significance for the increased incidence rates of endometriosis. According to literature data, Oestrogen Receptor 2 (ESR2) and Cytochrome P450 Family 19 Subfamily A Member 1 (CYP19A1) genes may be accounted to the potential risk factors of infertility associated with endometriosis. The reported research was aimed to evaluate the association between single nucleotide polymorphisms (SNPs) rs17179740 of ESR2 and rs2899470 of CYP19A1 genes and the incidence of endometriosis.
The study material included blood specimens, collected from patients (n = 200) with endometriosis. Blood samples from age-matched, endometriosis-free women (n = 200) served as control. The High-Resolution Melter (HRM) technique was applied for polymorphism analysis.
Regarding rs2899470 polymorphism TT homozygotes was significantly more prevalent among the patients with endometriosis than in the controls (OR 2.19; p = 0.04). In case of rs17179740, GG homozygotes, as well as AG-AA genotypes, were significantly more prevalent among the endometriosis patients (OR 2.48, p = 0.04 and OR 2.36, p = 0.04, respectively).
Summing up, the investigated polymorphisms of ESR2 and CYP19A1 gene are associated with the observed incidence of endometriosis.
子宫内膜异位症在波兰乃至全球都是一种常见的妇科疾病。激素、免疫和环境因素都对该疾病的发展起到促进作用。近年来，人们特别关注基因多态性，其可能对子宫内膜异位症发病率的上升具有特殊意义。根据文献数据，雌激素受体2（ESR2）基因和细胞色素P450家族19亚家族A成员1（CYP19A1）基因可能是与子宫内膜异位症相关的不孕潜在危险因素。本研究旨在评估ESR2基因的单核苷酸多态性（SNP）rs17179740和CYP19A1基因的rs2899470与子宫内膜异位症发病率之间的关联。
研究材料包括从200例子宫内膜异位症患者采集的血液样本。选取年龄匹配、无子宫内膜异位症的女性200例作为对照，采集其血液样本。采用高分辨率熔解曲线分析（HRM）技术进行多态性分析。
关于rs2899470多态性，TT纯合子在子宫内膜异位症患者中的比例显著高于对照组（比值比2.19；p = 0.04）。对于rs17179740，GG纯合子以及AG - AA基因型在子宫内膜异位症患者中的比例也显著更高（比值比分别为2.48，p = 0.04和比值比2.36，p = 0.04）。
综上所述，ESR2和CYP19A1基因的研究多态性与观察到的子宫内膜异位症发病率相关。
