Genetics and Molecular Biology (Aug 2024)

Investigation of genetic markers associated to type 2 diabetes mellitus in Santarém-Pará

  • Adjanny Estela Santos de Souza,
  • Caio Henrique Silva da Silva,
  • Rita de Cássia Silva de Oliveira,
  • Ana Paula Araújo Guimarães,
  • Aylla Núbia Lima Martins da Silva,
  • Isabela Guerreiro Diniz,
  • Haiala Soter Silva de Oliveira,
  • Diego Sarmento de Sousa,
  • Fernanda Andreza de Pinho Lott Figueiredo,
  • Greice de Lemos Cardoso Costa,
  • João Farias Guerreiro

DOI
https://doi.org/10.1590/1678-4685-gmb-2023-0107
Journal volume & issue
Vol. 47, no. 3

Abstract

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Abstract Genetic, epigenetic and environmental factors play an important role in the genesis of Type 2 Diabetes Mellitus (T2D). In the genetic context, one of the strategies used to investigate possible associations with diabetes is the search for Single Nucleotide Polymorphisms (SNPs), involving the comparison of alelle frequencies, the phenotypic variations and other relevant factors, such as environmental influences and lifestyle choices, Thus, the aim of this study was to find the relationship of risk variants for T2D in SNPs (rs4994) in the ADRB3 gene; (rs1799854) in the ABCC8 gene; (rs7901695 and rs12255372) in the TCF7L2 gene; and (rs8050136) in the FTO gene in a sample of the population of the municipality of Santarém (PA), Brazilian Amazon, in the northern region of Brazil. ABCC8 (rs1799854 C>T) showed a statistically significant association with T2D. Each chosen gene and SNP has been previously implicated in T2D risk according to existing scientific literature, owing to their roles in glucose regulation and body fat.

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