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

Caio Parente Barbosa, Caio P Barbosa, Juliana S Teles, Teles JS, Juliana Souto Teles, Tatiana G Lerner, Lerner TG, Tatiana Goberstein Lerner, Carla Peluso, Fernanda A Mafra, Mafra FA, Fernanda Mafra, Vilarino F.L, Fabia Lima Vilariño, Fabia L Vilarino, Denise M Christofolini, Denise Maria Christofolini, Bianca Bianco
Fertility and sterility · 2012 · vol. 97(5) , pp. 1124–1128 · doi:10.1016/j.fertnstert.2012.01.125 · PMID:22341374 · W2032781189
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This study investigated the association between polymorphisms in the FOXP3 and FCRL3 genes and the risk of endometriosis in women.

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Abstract

ObjectiveTo 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.DesignGenetic association study.SettingHuman reproduction outpatient clinic of Faculdade de Medicina do ABC.Patient(s)One hundred eighty-eight infertile women with endometriosis and 169 controls.Intervention(s)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.Result(s)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).Conclusion(s)Our findings support a possible gene-gene interaction leading to a cumulative effect on endometriosis development.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Forkhead Transcription Factors Polymorphism, Genetic Receptors, Immunologic Adult Brazil Case-Control Studies Chi-Square Distribution Disease Progression Endometriosis Endometriosis Endometriosis Female Forkhead Transcription Factors Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Humans Logistic Models Odds Ratio

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