Genetic association study of polymorphisms FOXP3 and FCRL3 in women with endometriosis

Caio Parente Barbosa, Caio P Barbosa, Juliana S Teles, Teles JS, Juliana Souto Teles, Tatiana G Lerner, Lerner TG, Tatiana Goberstein Lerner, Carla Peluso, Fernanda A Mafra, Mafra FA, Fernanda Mafra, Vilarino F.L, Fabia Lima Vilariño, Fabia L Vilarino, Denise M Christofolini, Denise Maria Christofolini, Bianca Bianco
Fertility and sterility · 2012 · vol. 97(5) , pp. 1124–1128 · doi:10.1016/j.fertnstert.2012.01.125 · PMID:22341374 · W2032781189
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This study investigated the association between polymorphisms in the FOXP3 and FCRL3 genes and the risk of endometriosis in women.

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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. 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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Forkhead Transcription Factors Polymorphism, Genetic Polymorphism, Genetic Receptors, Immunologic Adult Adult Brazil Brazil Case-Control Studies Case-Control Studies Chi-Square Distribution Chi-Square Distribution Disease Progression Disease Progression Endometriosis Endometriosis Endometriosis Endometriosis Female

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Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (41)

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