Analysis of FOXP3 polymorphisms in infertile women with and without endometriosis.

OBJECTIVE

To evaluate FOXP3 polymorphisms (rs3761549, rs3761548, rs2232368, rs2232366, and rs2280883) in a group of infertile women with and without endometriosis and controls.

DESIGN

Case control study.

SETTING

Human 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.