Análise de polimorfismos nos genes HSD17B1, MMP2 e MMP9 em pacientes com endometriose

Endometriosis is defined by the presence of endometrial tissue (glands and / or stroma) outside the uterine cavity, this condition affects 10-15% of women of reproductive age, in addition, the pain symptoms of the disease involves economic and social impacts. The disease presents late diagnosis and its etiology has not been fully elucidated, but it is known that endometriosis has multifactorial and polygenic character. The aim of the study was to assess whether the polymorphisms in the HSD17β1 (rs605059), involved in estrogen synthesis, and MMP2 genes (rs243865) and MMP9 (rs17576), which act in extracellular matrix remodeling are associated with endometriosis as the risk and severity of the disease. The case-control study consisted of 231 women, with 97 cases and 134 controls. All patients in the case group had histopathological diagnosis for endometriosis. Genomic DNA was extracted from saliva, and HSD17β1 gene polymorphism was detected by Nested-PCR followed by digestion of the PCR product by the enzyme BstUI, MMP2 and MMP9 genes were genotyped by Real Time-PCR. There was no statistically significant difference between the genotypic and allelic distributions of genes analyzed between groups (p> .05). Similarly there was no significant difference in the frequency of genotypes and alleles between different stages of the disease (p> .05). The results of this study suggest that polymorphisms in genes HSD17β1 (rs605059), MMP2 (rs243865) and MMP9 (rs17576), are not associated with endometriosis in Brazilian patients, even when the relations between different degrees of severity were evaluated