Estudo de associação de SNPs com a predisposição, proteção e prognóstico do câncer de tireoide na população do Estado do Rio Grande do Norte

Abstract

Thyroid cancer (TC) is the most common endocrine tumor and accounts for 1% of all malignant neoplasms. Genotyping studies look for single nucleotide polymorphisms (SNPs) that may be related to increased risk of TC and worst prognosis. Therefore, this study aimed to evaluate a panel of SNPs would be associated with TC predisposition and prognosis in a heterogeneous population from the State of Rio Grande do Norte/Brazil. Thyroid biopsies were selected from 279 TC patients and peripheral blood samples were collected from 301 healthy donor volunteers from the blood. Genotyping of a panel of 84 SNPs was performed in both groups using the MassARRAY SNP system. The SNPs rs10759944, rs7850258, rs116909374 and rs34566348 were associated with the risk of developing TC. Regarding the factors associated with TC prognosis, It was observed that rs2236487 was associated with risk of papillary carcinoma and the rs1571443 was associated with risk of follicular carcinoma. The rs31872 was associated with protection from the development of tumors ≤ 2 cm. When evaluating the association of SNPs with tumor staging, the rs10238549 was associated with the risk of developing stages I and II. On the other hand, the rs7800391 was associated with protection from stage I and II development. Furthermore, the rs949908 was associated with a risk of persistent TC, and rs487880 were associated with a risk of developing metastasis The present study, a pioneer in a mixed population in northeastern Brazil, suggests a panel of SNPs as predisposition and prognosis markers for CT in this population, which may be potentially useful to predict the risk of developing the disease and allow genetic counseling in clinical practice, thus avoiding invasive methods of analysis and, often, inconclusive diagnoses.