Implication of FSHB rs10835638 variant in endometriosis in Brazilian women.

IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Einstein-Sao Paulo Pub Date : 2023-10-27 eCollection Date: 2023-01-01 DOI:10.31744/einstein_journal/2023AO0483
Bianca Bianco, Flávia Altheman Loureiro, Camila Martins Trevisan, Denise Maria Christofolini, Antonio Simone Laganà, Caio Parente Barbosa
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Abstract

Objective: 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.

Methods: 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.

Results: 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.

Conclusion: The T allele is associated with the development of minimal/mild endometriosis in Brazilian women.

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FSHB rs10835638变异在巴西妇女子宫内膜异位症中的意义。
目的:卵泡刺激素β亚基基因rs10835638变异体(c.-211G>T)可能对生育能力和子宫内膜异位症有不利影响。进行了病例对照分析,旨在调查该变体与子宫内膜异位症的发展和/或进展之间的可能关系。方法:这项研究包括326名患有子宫内膜异位症的女性和482名没有子宫内膜异位的对照组,这两项研究都是通过手术期间的盆腔检查确认的。使用TaqMan实时聚合酶链式反应测定法进行基因分型。比较两组之间的基因型、等位基因频率和遗传模型。结果:rs10835638变异体的基因型和等位基因频率在患有和不患有子宫内膜异位症的女性之间没有差异。将子宫内膜异位症组分为可生育组和不育组并没有导致这些频率的显著差异。然而,无论生育能力如何,轻度/轻度子宫内膜异位症亚组的GT基因型频率均高于对照组。隐性模型中,T等位基因在轻度/轻度子宫内膜异位症妇女中明显高于对照组。结论:T等位基因与巴西妇女微小/轻度子宫内膜异位症的发生有关。
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来源期刊
Einstein-Sao Paulo
Einstein-Sao Paulo MEDICINE, GENERAL & INTERNAL-
CiteScore
2.00
自引率
0.00%
发文量
210
审稿时长
38 weeks
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