Results
| PMID | 22341374 |
| Gene Name | FOXP3 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | FOXP3 C-2383T/rs3761549, FCRL3 C-169T/rs7528684 |
| Population size | 357 |
| Population details | 357 (188 infertile women, 169 controls) |
| Sex | Female |
| Infertility type | Female infertility |
| Other associated phenotypes |
Endometriosis associated infertility |
|
Fertil Steril. 2012 May;97(5):1124-8. doi: 10.1016/j.fertnstert.2012.01.125. Epub Barbosa, Caio P| Teles, Juliana S| Lerner, Tatiana G| Peluso, Carla| Mafra, Fernanda A| Vilarino, Fabia L| Christofolini, Denise M| Bianco, Bianca Human Reproduction and Genetics Center, Department of Gynecology and Obstetrics, Faculdade de Medicina do Santo Andre, Sao Bernardo do Campo and Sao Caetano do Sul County, Santo Andre, Brazil. 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. Mesh Terms: Adult| Brazil| Case-Control Studies| Chi-Square Distribution| Disease Progression| Endometriosis/diagnosis/*genetics/immunology| Female| Forkhead Transcription Factors/*genetics| Gene Frequency| Genetic Association Studies| Genetic Predispositio |
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