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FAS基因多态性(Rs3740286和Rs4064)与巴西女性子宫内膜异位症的发生有关,但CASP8基因多态性(rs13416436和rs2037815)则不然。

Gene Polymorphisms in FAS (Rs3740286 and Rs4064) Are Involved in Endometriosis Development in Brazilian Women, but not those in CASP8 (rs13416436 and rs2037815).

作者信息

Pissetti Cristina Wide, Tanaka Sarah Cristina Sato Vaz, Hortolani Andrezza Cristina Cancian, Marqui Alessandra Bernadete Trovó de

机构信息

Department of Obstetrics and Ginecology, Universidade Federal da Paraíba, João Pessoa, PB, Brazil.

Department of Patology, Genetics and Evolution, Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil.

出版信息

Rev Bras Ginecol Obstet. 2018 Aug;40(8):450-457. doi: 10.1055/s-0038-1667183. Epub 2018 Jul 23.

Abstract

OBJECTIVE

The present study aims to investigate the association between () (rs13416436 and rs2037815) and () (rs3740286 and rs4064) polymorphisms with endometriosis in Brazilian women.

METHODS

In the present case-control study, 45 women with a diagnosis of endometriosis and 78 normal healthy women as a control group were included. The genotyping was determined by real-time polymerase chain reaction (PCR) with Taqman hydrolysis probes (Thermo Fisher Scientific, Darmstadt, Germany). Genotypic and allelic frequencies were analyzed using Chi-squared (χ) test. In order to determine the inheritance models and haplotypes ,SNPStats (Institut Català d'Oncologia, Barcelona, Spain) was used. Levels of 5% ( = 0.05) were considered statistically significant.

RESULTS

No significant difference was observed in genotypic or allelic frequencies between control and endometriosis groups for rs13416436 and rs2037815 ( gene). On the other hand, a significant difference between rs3740286 and rs4064 ( gene) was found. Regarding polymorphisms in the gene, a statistically significant difference was found in co-dominant and dominant models. Only the haplotype containing the rs3740286A and rs4064G alleles in the gene were statistically significant.

CONCLUSION

The polymorphisms in the gene were not associated with endometriosis. The results indicate an association between gene polymorphisms and the risk of developing endometriosis.

摘要

目的

本研究旨在调查巴西女性中()(rs13416436和rs2037815)和()(rs3740286和rs4064)基因多态性与子宫内膜异位症之间的关联。

方法

在本病例对照研究中,纳入了45例诊断为子宫内膜异位症的女性和78例正常健康女性作为对照组。采用Taqman水解探针(德国达姆施塔特市赛默飞世尔科技公司)通过实时聚合酶链反应(PCR)进行基因分型。使用卡方(χ)检验分析基因型和等位基因频率。为了确定遗传模式和单倍型,使用了SNPStats(西班牙巴塞罗那市加泰罗尼亚肿瘤研究所)。5%(α = 0.05)的水平被认为具有统计学意义。

结果

对于rs13416436和rs2037815(基因),对照组和子宫内膜异位症组之间在基因型或等位基因频率上未观察到显著差异。另一方面,发现rs3740286和rs4064(基因)之间存在显著差异。关于基因的多态性,在共显性和显性模型中发现了统计学显著差异。仅基因中包含rs3740286A和rs4064G等位基因的单倍型具有统计学意义。

结论

基因的多态性与子宫内膜异位症无关。结果表明基因多态性与子宫内膜异位症发生风险之间存在关联。

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