Influence of STAT4 gene polymorphisms in the pathogenesis of endometriosis

Bianca Bianco, Fernandes RFM, Ramon Felix Martins Fernandes, Trevisan CM, Camila Martins Trevisan, Denise Maria Christofolini, Christofolini DM, Denise M Christofolini, Carlos Millán Sanz‐Lomana, Carlos Millán Sanz-Lomana, Sanz-Lomana CM, Javier Valero de Bernabe, de Bernabe JV, Caio P Barbosa, Caio Parente Barbosa
Annals of human genetics · 2019 · vol. 83(4) , pp. 249–255 · doi:10.1111/ahg.12309 · PMID:30887509 · W2925069951
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This study investigated four STAT4 gene polymorphisms in Brazilian women and found associations between specific genotypes and haplotypes and the pathogenesis of endometriosis, including endometriosis-related infertility and disease severity.

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Abstract

The STAT4 gene is vital to signaling pathways in the immune response. Immunological alterations are involved in the pathogenesis of endometriosis, and STAT4 polymorphisms may be linked to disease development. This study's aim is to evaluate the possible association between four STAT4 polymorphisms (rs7601754/G > A, rs11889341/C > T, rs7574865/T > G, and rs7582694/C > G) and the pathogenesis of endometriosis in Brazilian women. This case-control study's sample comprised 238 women with endometriosis and 201 healthy, fertile women without endometriosis (which was surgically confirmed). Genotyping was performed using the TaqMan system with a real-time polymerase chain reaction; the genotype, allele, and haplotype frequencies were then compared between groups. A single-polymorphism analysis revealed that the TT genotype of the rs7574865/T > G polymorphism was significantly more frequent in women with minimal or mild endometriosis than in the controls (10% vs. 5%, p = 0.047). The CGAC, GTAT, and GTAC haplotypes were significantly more frequent in the women with endometriosis-related infertility (5.8%, 4.1%, and 2.9%, respectively) than in the controls (2.4%, 1.1%, and 0.8%, respectively; p = 0.020, p = 0.011, and p = 0.032, respectively), but the GGGC and CTAT haplotypes were significantly more prevalent in the control group (34.7% and 13.9%, respectively) than among the infertile group (26.2% and 9.1%, respectively). In addition, the CGAC haplotype was more frequently found in those with minimal or mild endometriosis (6.8%) than in the controls (2.4%, p = 0.009), and the GTAT haplotype was more commonly found in those with moderate or severe disease (3.6%) than in the controls (1.1%, p = 0.028). These findings suggest that STAT4 polymorphisms can influence the pathogenesis of endometriosis.

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Condition tags

endometriosisinfertility

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Polymorphism, Single Nucleotide STAT4 Transcription Factor Adult Alleles Case-Control Studies Endometriosis Endometriosis Endometriosis Female Gene Frequency Genetic Association Studies Genotype Haplotypes Humans Phenotype STAT4 Transcription Factor

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