Genetic association study of polymorphisms FOXP3 and FCRL3 in women with endometriosis

It has been suggested an immunologic mechanism is involved in the development of endometriosis. In a genetic association study, we demonstrated a cumulative effect of FOXP3 and FCRL3 polymorphisms in endometriosis.


Caio P. Barbosa, M.D., Ph.D., Juliana S. Teles, M.D., Tatiana G. Lerner, M.D., Carla Peluso, B.Sc., Fernanda A. Mafra, B.Sc., Fabia L. Vilarino, M.D., M.Sc., Denise M. Christofolini, Ph.D., Bianca Bianco, Ph.D.

Vol 97, Issue 5, Pages 1124-1128



To consider a possible cumulative effect of two genetic polymorphisms (FOXP3 C-2383T/rs3761549 and FCRL3 C-169T/rs7528684) that were previously shown to be associated with endometriosis.


Genetic association study.


Human reproduction outpatient clinic of Faculdade de Medicina do ABC.


One hundred eighty-eight infertile women with endometriosis and 169 controls.


Detection of polymorphisms FOXP3 (C-2383T/rs3761549) and FCRL3 (C-169T/rs7528684) by TaqMan real-time polymerase chain reaction. The results were analyzed statistically.

Main Outcome Measure(s):

Genotype distribution, allele frequency, and combination analysis of the FOXP3 and FCRL3 polymorphisms.


Single-marker analysis revealed a significant association of FOXP3 C-2383T and FCRL3 C-169T, independently, with endometriosis-related infertility, regardless of the stage of the disease. Considering the combined genotypes of FCRL3 and FOXP3 polymorphisms, a positive association was found between genotypes FCRL3TT/FOXP3CT, FCRL3CT/FOXP3CT, and FCRL3CC/FOXP3CT and the risk of endometriosis development. Moreover, a progression of the disease risk was observed according to the presence of one or two copies of risk allele FCRL3 C and only one copy of risk allele FOXP3 T (odds ratio [OR] = 2.14, OR = 3.25, and OR = 6.0, respectively, for genotypes FCRL3TT/FOXP3CT, FCRL3CT/FOXP3CT, and FCRL3CC/FOXP3CT).


Our findings support a possible gene-gene interaction leading to a cumulative effect on endometriosis development.

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