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

IF 1.3 4区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Genetics and Molecular Biology Pub Date : 2024-08-05 eCollection Date: 2024-01-01 DOI:10.1590/1678-4685-GMB-2023-0107

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

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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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对圣塔伦-帕拉州 2 型糖尿病相关遗传标记的调查。

遗传、表观遗传和环境因素在 2 型糖尿病（T2D）的发病过程中起着重要作用。在遗传学方面，用于研究与糖尿病可能存在的关联的策略之一是寻找单核苷酸多态性（SNPs），其中包括比较单核苷酸频率、表型变异和其他相关因素，如环境影响和生活方式选择；(rs1799854) 、ABCC8 基因中的 SNPs (rs7901695 和 rs12255372) 和 FTO 基因中的 SNPs (rs8050136) 与 T2D 的关系。ABCC8（rs1799854 C>T）与 T2D 有显著的统计学关联。根据现有的科学文献，所选的每个基因和 SNP 以前都与 T2D 风险有关，因为它们在葡萄糖调节和体内脂肪方面发挥作用。

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来源期刊

Genetics and Molecular Biology 生物-生化与分子生物学

CiteScore

4.20

自引率

4.80%

发文量

111

审稿时长

3 months

期刊介绍： Genetics and Molecular Biology (formerly named Revista Brasileira de Genética/Brazilian Journal of Genetics - ISSN 0100-8455) is published by the Sociedade Brasileira de Genética (Brazilian Society of Genetics). The Journal considers contributions that present the results of original research in genetics, evolution and related scientific disciplines. Manuscripts presenting methods and applications only, without an analysis of genetic data, will not be considered.