A NEW PANEL OF SNPS TO ASSESS TRYROID CARCINOMA RISK: A PILOT STUDY IN A BRAZILIAN ADMIXTURE POPULATION
Cancer; thyroid; biomarkers; SNPs; predisposition.
Thyroid cancer (CT) is the most common endocrine tumor and accounts for 1% of all malignancies. The number of cases diagnosed has been increasing and it is estimated that 212 thousand new cases will appear each year in the world. This carcinoma is associated with several environmental and genetic factors. Currently, there is no study of genetic predisposition to CT performed in the miscegenated population of Rio Grande do Norte, a place whose indecency is high compared to the Brazilian average. In this way, the present project seeks to evaluate the genetic predisposition of the local population to develop the CT, to better understand the pathophysiology of this disease and to establish potential biomarkers of predisposition. In this purpose, histopathological material was selected from the sample bank of the LIGA Pathology Laboratory to compose the study group, and venous blood from donors from the Hemovida blood bank as a control group. Genomic DNA from thyroid gland paraffin and controls’ blood sample were extracted using the QIAamp® DNA FFPE Tissue kit and QIAamp® genomic DNA kit, respectively. The genotyping of a panel of 84 SNPs was performed using the MALDI-TOF Sequenom® MassARRAY iPLEX Gold Mass Spectrophotometer, in collaboration with the National Center for Genotyping of Santiago de Compostela - Spain. Thirty-one SNPs showed significant differences in their allelic frequencies when compared between cases and controls. Of these, 20 SNPs were associated with the risk of developing CT, with the variants being rs10788123 (OR = 2.52), rs116909374 (OR = 2.98), rs965513 (OR = 2.47) and rs9927976 (OR = 2.38) because they confer greater risk to patients. Additionally, 11 SNPs presented as a protective factor for the non-development of this neoplasia. Thus, the present study, unprecedented in the population of Rio Grande do Norte, suggests the association of these SNPs as biomarkers of CT predisposition in this population.