在圣塔伦-帕拉州对与2型糖尿病相关的基因标记物的研究。
Investigation of genetic markers associated to type 2 diabetes mellitus in Santarém-Pará.
作者信息
Souza Adjanny Estela Santos de, Silva Caio Henrique Silva da, Oliveira Rita de Cássia Silva de, Guimarães Ana Paula Araújo, Silva Aylla Núbia Lima Martins da, Diniz Isabela Guerreiro, Oliveira Haiala Soter Silva de, Sousa Diego Sarmento de, Figueiredo Fernanda Andreza de Pinho Lott, Costa Greice de Lemos Cardoso, Guerreiro João Farias
机构信息
Universidade do Estado do Pará, Faculdade de Medicina, Departamento de Morfologia e Ciências Fisiológicas, Belém, PA, Brazil.
Universidade Federal do Pará, Instituto de Ciências Biológicas, Laboratório de Genética Humana e Médica, Belém, PA, Brazil.
出版信息
Genet Mol Biol. 2024 Aug 5;47(3):e20230107. doi: 10.1590/1678-4685-GMB-2023-0107. eCollection 2024.
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.
遗传、表观遗传和环境因素在2型糖尿病（T2D）的发生中起着重要作用。在遗传背景下，用于研究与糖尿病可能关联的策略之一是寻找单核苷酸多态性（SNP），这涉及到等位基因频率、表型变异以及其他相关因素（如环境影响和生活方式选择）的比较。因此，本研究的目的是在巴西北部地区巴西亚马逊州圣塔伦市的一个人群样本中，寻找ADRB3基因中的SNP（rs4994）、ABCC8基因中的（rs1799854）、TCF7L2基因中的（rs7901695和rs12255372）以及FTO基因中的（rs8050136）与T2D风险变异之间的关系。ABCC8（rs1799854 C>T）与T2D存在统计学上的显著关联。根据现有科学文献，由于所选的每个基因和SNP在葡萄糖调节和身体脂肪方面的作用，它们先前都被认为与T2D风险有关。
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