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

Cristina Wide Pissetti, Sarah Cristina Sato Vaz Tanaka, Andrezza Cristina Cancian Hortolani, Alessandra Bernadete Trovó de Marqui
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2018 · vol. 40(08) , pp. 450–457 · doi:10.1055/s-0038-1667183 · PMID:30036894 · PMC10309356 · W2884105522
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This case-control study found that FAS gene polymorphisms (rs3740286 and rs4064) are associated with endometriosis development in Brazilian women, while CASP8 gene polymorphisms (rs13416436 and rs2037815) are not.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-08 ⓘ

This Brazilian case-control study examined whether apoptosis-related polymorphisms in CASP8 (rs13416436 and rs2037815) and FAS (rs3740286 and rs4064) are associated with endometriosis, using 45 women with surgically confirmed endometriosis and 78 laparoscopically/laparotomically confirmed controls. Genotyping was performed from peripheral blood using real-time PCR with TaqMan hydrolysis probes, and associations were tested for genotypic/allelic frequencies plus inheritance models and haplotypes. The study found no significant differences for CASP8 variants, while FAS variants rs3740286 and rs4064 showed significant associations, with only the rs3740286A–rs4064G haplotype being significant. Relevance to endometriosis: the paper directly tests genetic associations with endometriosis development and reports significant findings for FAS (rs3740286/rs4064) in Brazilian women, though CASP8 variants were not associated.

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Abstract

Objective The present study aims to investigate the association between caspase-8 (CASP8) (rs13416436 and rs2037815) and Fas cell surface death receptor (FAS) (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 (χ2) test. In order to determine the inheritance models and haplotypes ,SNPStats (Institut Català d'Oncologia, Barcelona, Spain) was used. Levels of 5% (p = 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 (CASP8 gene). On the other hand, a significant difference between rs3740286 and rs4064 (FAS gene) was found. Regarding polymorphisms in the FAS gene, a statistically significant difference was found in co-dominant and dominant models. Only the haplotype containing the rs3740286A and rs4064G alleles in the FAS gene were statistically significant. Conclusion The polymorphisms in the CASP8 gene were not associated with endometriosis. The results indicate an association between FAS gene polymorphisms and the risk of developing endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Caspase 8 Endometriosis fas Receptor Polymorphism, Genetic Adult Brazil Case-Control Studies Caspase 8 Endometriosis fas Receptor Female Humans

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