Involvement of interferon regulatory factor 5 (IRF5) gene polymorphisms and haplotype in endometriosis-related infertility



The IRF5 gene belongs to a family of transcription factors involved in modulating cell growth, differentiation, apoptosis, and immune system activity. A growing body of evidence indicates that immunological alterations are involved in the pathogenesis of endometriosis, and as a result, polymorphisms in autoimmune-related genes have emerged as possible candidates linked to disease development. Here, we aimed to evaluate a possible association between IRF5 polymorphisms (rs2004640/T>G, rs3807306/G>T, rs10488631/T>C and rs2280714/T>C) and the pathogenesis of endometriosis.


A case-control study was performed comprising an experimental group of 236 infertile women with endometriosis and a control group of 232 fertile women. IRF5 polymorphisms were identified by real-time PCR using the TaqMan method. Genotype distribution and allele frequency were calculated, and haplotype analysis was performed.


Single-marker analysis revealed that the IRF5 rs10488631 (polymorphic C allele) polymorphism was significantly associated with moderate/severe endometriosis (p = 0.028; OR = 1.79, 95% IC = 1.09-2.94). No association was found with respect to rs2004640, rs3807306 and rs2280714 polymorphisms and the endometriosis group. The combined genotypes of four IRF5 polymorphisms identified the haplotype ‘‘GGTT’’, which was associated with protection against minimal/mild endometriosis-related infertility (p = 0.003), while the haplotype “GTCT” was associated with a risk of developing moderate/severe endometriosis-related infertility (p = 0.047).


This is the first study to report an association between IRF5 polymorphisms and endometriosis, and the findings suggest that the IRF5 rs10488631 polymorphism and haplotype “GTCT” were involved in the risk of moderate/severe endometriosis development. The haplotype “GGTT’’ was associated with protection against minimal/mild endometriosis.

J Endometr Pelvic Pain Disord 2017; 9(3): 188 - 192




Bianca Bianco, Celeste R. de Camargo, Denise M. Christofolini, Caio P. Barbosa

Article History


Financial support: The authors thank CNPq (Conselho Nacional de Desenvolvimento Científico e Tecnológico) for granting Celeste R. de Camargo a student scholarship.
Conflict of interest: None of the authors has financial interest related to this study to disclose.

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  • Human Reproduction and Genetics Center, Faculdade de Medicina do ABC, Santo Andre - Brazil

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