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

Autor(es)

Barbosa, Caio P. ^[1] ; Teles, Juliana S. ^[1] ; Lerner, Tatiana G. ^[1] ; Peluso, Carla ^[1] ; Mafra, Fernanda A. ^[1] ; Vilarino, Fabia L. ^[1] ; Christofolini, Denise M. ^[1] ; Bianco, Bianca ^[1]

Afiliação do(s) autor(es)

^[1] Fac Med Santo Andre Sao Bernardo do Campo & Sao C, Dept Gynecol & Obstet, Human Reprod & Genet Ctr, Santo Andre - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Fertility and Sterility; v. 97, n. 5, p. 1124-1128, MAY 2012.
• Citações Web of Science: 12

Resumo

Objective: 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. Design: Genetic association study. Setting: Human 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. (Fertil Steril (R) 2012; 97: 1124-8. (C) 2012 by American Society for Reproductive Medicine.) (AU)

• Processo FAPESP: 09/09980-2 - Estudo de polimorfismo do gene PTPN22 em mulheres portadoras de endometriose
• Beneficiário: Caio Parente Barbosa
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 10/01104-6 - Estudo do polimorfismo Fok1 do gene VDR em mulheres portadoras de endometriose
• Beneficiário: Tatiana Goberstein Lerner
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica
• Processo FAPESP: 09/11298-5 - Estudo de expressão da telomerase na endometriose
• Beneficiário: Fernanda Abani Mafra
• Modalidade de apoio: Bolsas no Brasil - Mestrado