einstein (São Paulo). 19/Oct/2023;21:eAO0483.

Implication of FSHB rs10835638 variant in endometriosis in Brazilian women

Bianca , Flávia Altheman , Camila Martins , Denise Maria , Antonio Simone , Caio Parente

DOI: 10.31744/einstein_journal/2023AO0483

Highlights

First study to investigate the rs10835638 variant in Brazilian women with endometriosis.

The homozygous TT genotype was very rare among Brazilian women.

G۪۪enotype frequencies did not differ between endometriosis and Control Groups.

The T allele was more common in minimal/mild endometriosis subgroups than in the Control Group.

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 casecontrol 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 realtime 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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Implication of FSHB rs10835638 variant in endometriosis in Brazilian women
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