title: Genetic association study of polymorphisms FOXP3 and FCRL3 in women with endometriosis.
abstract: 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.
  
  
  METHODS
  Genetic association study.
  
  
  METHODS
  Human reproduction outpatient clinic of Faculdade de Medicina do ABC.
  
  
  METHODS
  One hundred eighty-eight infertile women with endometriosis and 169 controls.
  
  
  METHODS
  Detection of polymorphisms FOXP3 (C-2383T/rs3761549) and FCRL3 (C-169T/rs7528684) by TaqMan real-time polymerase chain reaction. The results were analyzed statistically.
  
  
  METHODS
  Genotype distribution, allele frequency, and combination analysis of the FOXP3 and FCRL3 polymorphisms.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  Our findings support a possible gene-gene interaction leading to a cumulative effect on endometriosis development.
authors.affiliation: Human 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.
authors.forename: Caio P
authors.initials: CP
authors.lastname: Barbosa
authors.forename: Juliana S
authors.initials: JS
authors.lastname: Teles
authors.forename: Tatiana G
authors.initials: TG
authors.lastname: Lerner
authors.forename: Carla
authors.initials: C
authors.lastname: Peluso
authors.forename: Fernanda A
authors.initials: FA
authors.lastname: Mafra
authors.forename: Fabia L
authors.initials: FL
authors.lastname: Vilarino
authors.forename: Denise M
authors.initials: DM
authors.lastname: Christofolini
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
mesh_terms: D000328:Adult; D001938:Brazil; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D018450:Disease Progression; D004715:Endometriosis / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D016015:Logistic Models; D016017:Odds Ratio; D010641:Phenotype; D011110:Polymorphism, Genetic; D060888:Real-Time Polymerase Chain Reaction; D011971:Receptors, Immunologic / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D012720:Severity of Illness Index
chemical_list: C457775:FCRL3 protein, human; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; D011971:Receptors, Immunologic