Dados do Trabalho

Título

ANALYSIS OF THE RS3761548 POLYMORPHISM OF THE FOXP3 GENE IN PATIENTS WITH BREAST CANCER

Introdução

Breast cancer is among the most common malignant neoplasms in the world, especially among women, occupying the leading cause of cancer deaths among women in Brazil. Some genetic and environmental factors contribute to disease progression. The FOXP3 gene is part of a family of transcription regulatory genes and the absence of this gene's function leads to a lack of Tregs and, as a consequence, to greater tumor proliferation.

Objetivo

The aim of this research was to analyze the rs3761548 polymorphism in the FOXP3 gene and its correlation with clinical-demographic aspects of patients with breast cancer.

Método

This project is an observational, descriptive and cross-sectional study, which analyzed a total of 171 samples of biological material (saliva) collected through oral Swab, being 45 samples from women diagnosed with breast cancer (group case) and 126 samples from women without breast cancer (control group). Genotyping of the g.8048C>A (rs3761548) polymorphism in the FOXP3 gene was performed by means of DNA amplification using the polymerase chain reaction (PCR) technique and, subsequently, visualized by gel electrophoresis. The case-control association for genetic polymorphism was performed by calculating the Odds Ratio (OR) with a 95% confidence interval and Fisher's exact test. To characterize the degree of association of the variables, Kendall's Tau-b correlation coefficient was used. Data were calculated using SPSS 22.0 software.

Resultado

It was observed that the frequency of alleles and variant genotypes - heterozygous (AC) and homozygous (CC) genotype - of the polymorphism did not differ significantly between the case and control groups, demonstrating that there is no relationship between this polymorphism and susceptibility to breast cancer in this population (p>0.05 in all analyses).

Conclusão

The g.8048C>A (rs3761548) polymorphism in the FOXP3 gene is not associated with the risk of breast cancer in this population. However, the AA genotype was associated with an increase in the value of BMI in the population studied and clinical data – presence of arterial hypertension, BMI and tumor size – showed positive correlations with each other; in addition to the positive correlation between the presence of estrogen receptor and progesterone receptor.

Palavras-chave

Genetic polymorphism; FOXP3; Breast cancer