In Brief
We performed a case-control study, aiming to investigate the possible relationship between the FSHB rs10835638 variant and the development and/or progression of endometriosis in 326 women with endometriosis and 482 controls. Our results suggest that the T allele is associated with the development of minimal/mild endometriosis in Brazilian women.
Highlights
First study to investigate the rs10835638 variant in Brazilian women with endometriosis.
The homozygous TT genotype was very rare among Brazilian women.
Genotype 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 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.
Endometriosis; Follicle stimulating hormone, beta subunit; Infertility; Polymorphism, single nucleotide
