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Fertil Steril. 2012 May;97(5):1124-8. doi: 10.1016/j.fertnstert.2012.01.125. Epub 2012 Feb 16.

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

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  • 1Human Reproduction and Genetics Center, Department of Gynecology and Obstetrics, Faculdade de Medicina do Santo André, São Bernardo do Campo and São Caetano do Sul County, Santo André, Brazil.



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.


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.

Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

[PubMed - indexed for MEDLINE]
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