Centro Universitário FMABC, Santo André, SP, Brazil.
Unit of Gynecologic Oncology, ARNAS "Civico-Di Cristina-Benfratelli", Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
Einstein (Sao Paulo). 2023 Oct 27;21:eAO0483. doi: 10.31744/einstein_journal/2023AO0483. eCollection 2023.
The follicle-stimulating hormone subunit beta gene rs10835638 variant (c.-211G>T) may have detrimental effects on fertility and protective effects against endometriosis. A case-control analysis was performed, aiming to investigate the possible relationship between this variant and the development and/or progression of endometriosis.
This study included 326 women with endometriosis and 482 controls without endometriosis, both confirmed by inspection of the pelvic cavity during surgery. Genotyping was performed using a TaqMan real-time polymerase chain reaction assay. Genotype and allele frequencies and genetic models were compared between the groups.
The genotype and allele frequencies of the rs10835638 variant did not differ between women with and those without endometriosis. Subdividing the endometriosis group into fertile and infertile groups did not result in a significant difference in these frequencies. However, the subgroup with minimal/mild endometriosis had a higher frequency of the GT genotype than the Control Group, regardless of fertility. The T allele was significantly more common in women with minimal/mild endometriosis than in the Control Group in the recessive model.
The T allele is associated with the development of minimal/mild endometriosis in Brazilian women.
卵泡刺激素亚基β基因 rs10835638 变体(c.-211G>T)可能对生育能力有不利影响,并对子宫内膜异位症有保护作用。进行了病例对照分析,旨在研究该变体与子宫内膜异位症的发生和/或进展之间的可能关系。
本研究纳入了 326 名经手术盆腔检查确诊为子宫内膜异位症的女性和 482 名无子宫内膜异位症的对照女性。采用 TaqMan 实时聚合酶链反应检测 rs10835638 变体的基因型。比较两组间的基因型和等位基因频率以及遗传模型。
rs10835638 变体的基因型和等位基因频率在子宫内膜异位症患者和非子宫内膜异位症患者之间无差异。将子宫内膜异位症组分为有生育能力和无生育能力组,这些频率没有差异。然而,无论生育能力如何,轻微/轻度子宫内膜异位症亚组的 GT 基因型频率均高于对照组。在隐性模型中,T 等位基因在轻微/轻度子宫内膜异位症患者中比对照组更为常见。
T 等位基因与巴西女性轻微/轻度子宫内膜异位症的发生有关。