title: Analysis of FOXP3 polymorphisms in infertile women with and without endometriosis.
abstract: OBJECTIVE
  To evaluate FOXP3 polymorphisms (rs3761549, rs3761548, rs2232368, rs2232366, and rs2280883) in a group of infertile women with and without endometriosis and controls.
  
  
  METHODS
  Case control study.
  
  
  METHODS
  Human Reproduction Outpatient Clinic of Faculdade de Medicina do ABC.
  
  
  METHODS
  The study groups were 177 infertile women with endometriosis, 71 women with idiopathic infertility, and 171 fertile women as controls.
  
  
  METHODS
  The FOXP3 polymorphisms were identified by TaqMan polymerase chain reaction (PCR). The results were analyzed statistically.
  
  
  METHODS
  Genotype distribution, allele frequency, and haplotype analysis of the FOXP3 polymorphisms.
  
  
  RESULTS
  Single-marker analysis revealed that FOXP3 rs3761549 was significantly associated with endometriosis. In the infertile group without endometriosis, single-marker analysis revealed statistical difference for rs2280883 and rs2232368 FOXP3 polymorphisms. No associations were found with rs3761548 and rs2232366 either for endometriosis-related infertility group or idiopathic infertility group. Haplotype analysis of five FOXP3 polymorphisms identified a haplotype CTTGA associated with endometriosis and ACTAG associated with idiopathic infertility.
  
  
  CONCLUSIONS
  This is the first study to report an association between FOXP3 polymorphisms and endometriosis and/or infertility. These findings require replication in other populations but suggest that the FOXP3 polymorphisms can be associated with risk of idiopathic infertility (rs2280883 and rs2232368) and endometriosis (rs3761549) in Brazilian women.
authors.affiliation: Division of Pathological Gynecology and Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Santo André, Brazil.
authors.forename: Gustavo M
authors.initials: GM
authors.lastname: André
authors.forename: Caio P
authors.initials: CP
authors.lastname: Barbosa
authors.forename: Juliana S
authors.initials: JS
authors.lastname: Teles
authors.forename: Fábia 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; D004715:Endometriosis / Q000235:genetics* / Q000276:immunology; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000276:immunology; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors