GENOTYPE FREQ 6 MZO 2022.xlsx

Type 2 Diabetes Mellitus (T2D) is classified as a multifactorial and polygenic disease. The search for T2D associated DNA variants is complex; population studies are essential to assess the genetic influence. Association of T2D with a set of 121 genetic variants (63 located in 37 genes and four intergenic regions, and 58 informative ancestry markers) was assessed in 442 subjects (262 cases and 180 controls) from Northeastern Mexico. The approach was made using different transmission models: dominant, recessive, and MLMM. Age, body mass index (BMI), and gender data were obtained and considered as cofactors (gene-environment (G × E) interaction) in a multi-locus genetic model, and the ORs were calculated. Genetic variants were classified as Regulatory Region Variants, Nonsense-mediated decay transcript variants, and Missense Variants. Thirteen genetic variants showed association (P&lt;0.05 after Bonferroni correction), being the most significant variants <i>RPTOR</i> (rs12950541 p&lt; 2.18x10^-32) and <i>UCP3 </i>(rs7930460 and rs1800849 p&lt;8.67x 10^-16 and 4.64x 10^-7, respectively) with the additive genetic model (MLMM). These results can contribute to understanding the role of genetic variants on the risk of developing T2D in the Northeastern Mexican mestizo population and support future studies to evaluate and validate as biomarkers to improve genetic assessment via precision medicine.