Analysis of FOXP3 polymorphisms in infertile women with and without endometriosis

ObjectiveTo evaluate FOXP3 polymorphisms (rs3761549, rs3761548, rs2232368, rs2232366, and rs2280883) in a group of infertile women with and without endometriosis and controls.DesignCase control study.SettingHuman Reproduction Outpatient Clinic of Faculdade de Medicina do ABC.Patient(s)The study groups were 177 infertile women with endometriosis, 71 women with idiopathic infertility, and 171 fertile women as controls.Intervention(s)The FOXP3 polymorphisms were identified by TaqMan polymerase chain reaction (PCR). The results were analyzed statistically.Main Outcome Measure(s)Genotype distribution, allele frequency, and haplotype analysis of the FOXP3 polymorphisms.Result(s): 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.Conclusion(s): 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.