Barros C M A R, Araujo-Neto A P, Lopes T R, Barros M A L, Motta F J N, Canalle R, Nunes L C C, Rey J A, Burbano R R, Lima-Barros M A, Yoshioka F K N, Pinto G R
Laboratório de Genética e Biologia Molecular, Universidade Federal do Piauí, Parnaíba, PI, Brasil.
Núcleo de Tecnologia Farmacêutica, Universidade Federal do Piauí, Teresina, PI, Brasil.
Genet Mol Res. 2014 Sep 29;13(3):7889-98. doi: 10.4238/2014.September.29.1.
Approximately 200 million people suffer from type 2 diabetes (T2D) worldwide, and the rapid increase in the prevalence of this disease is likely a result of multiple environmental factors, such as increased food intake and decreased physical activity in genetically predisposed individuals. Different population studies have demonstrated a strong association of two polymorphic variations in the TCF7L2 gene, the noncoding single nucleotide polymorphisms (SNPs) rs7903146 (C/T) and rs12255372 (G/T), with T2D. Herein, we analyzed the association of these SNPs with T2D in a population from northeastern Brazil. Our results showed that the genotype and allele frequencies in TCF7L2 rs7903146 and rs12255372 were similar in the patient and control groups (P > 0.05). In addition, the allele frequencies were not significantly associated with T2D risk [rs7903146: odds ratio (OR) = 0.95, 95% confidence interval (CI) = 0.52-1.76, P = 1.00, and rs12255372: OR = 1.38, 95%CI = 0.72-2.62, P = 0.41]. These data suggest that the TCF7L2 SNPs rs7903146 and rs12255372 may not significantly contribute to T2D susceptibility in this population. However, our results may reflect the small number of subjects. Alternatively, these results may be attributable to specific ethnic effects, as most of the previously reported associations were demonstrated with predominantly European populations. To reach a definitive conclusion on the role of such gene variants for T2D in mixed populations, additional efforts are necessary to replicate this study with larger populations from areas with more ethnic heterogeneity.
全球约有2亿人患有2型糖尿病（T2D），这种疾病患病率的迅速上升可能是多种环境因素导致的结果，比如在具有遗传易感性的个体中食物摄入量增加和身体活动减少。不同的人群研究表明，TCF7L2基因中的两个多态性变异，即非编码单核苷酸多态性（SNP）rs7903146（C/T）和rs12255372（G/T），与T2D密切相关。在此，我们分析了巴西东北部人群中这些SNP与T2D的相关性。我们的结果显示，患者组和对照组中TCF7L2 rs7903146和rs12255372的基因型和等位基因频率相似（P>0.05）。此外，等位基因频率与T2D风险无显著相关性[rs7903146：比值比（OR）=0.95，95%置信区间（CI）=0.52 - 1.76，P = 1.00；rs12255372：OR = 1.38，95%CI = 0.72 - 2.62，P = 0.41]。这些数据表明，TCF7L2 SNP rs7903146和rs12255372可能对该人群中T2D的易感性没有显著影响。然而，我们的结果可能反映出样本量较少。或者，这些结果可能归因于特定的种族效应，因为之前报道的大多数相关性主要是在欧洲人群中得到证实的。为了就此类基因变异在混合人群中对T2D的作用得出明确结论，有必要进一步努力，在种族异质性更高地区的更大人群中重复这项研究。
