Síndrome metabólica: marcadores genéticos em população menonita brasileira

Abstract

A syndrome consists of a set of signs and symptoms that often affect different organic systems, becoming characteristic of a situation, but which are not necessarily exclusive to it. The central element of Metabolic Syndrome (MetS) is insulin resistance, which leads to hyperglycemia, dyslipidemia, high blood pressure, and central obesity, resulting in increased cardiovascular risk. Considering that MetS affects almost 40% of the Brazilian adult population, investigating elements that may allow early diagnosis of the condition becomes essential. Therefore, current research aimed to identify potential genetic markers (polymorphisms) associated with MetS in groups with low gene flow, the Mennonites. Data from 320 participants were used, classified as having or not having MetS. Parameters analyzed were anthropometric measures, lipid profile, and the presence of 5 types of single nucleotide polymorphisms (SNPs) from the genes APOB, FADS1, LINC02702, FUT2. As expected, there was a relationship between alterations in anthropometric data and lipid profile in the MetS group. However, a statistical relationship was identified for only one SNP. Homozygosity for rs492602*G FUT2 showed a protective effect, with reduction in waist circumference. On the other hand, it was also associated with increased blood pressure and blood glucose. An increase in sample size of carriers of homozygosity for this SNP is necessary to confirm these effects. Identifying genetic markers for a multifactorial disease like MS is essential for the development of precision medicine and, in the future, to offer more efficient treatments to its carriers.