Investigating the Association Between Genetic Variants and Susceptibility to Type 2 Diabetes Mellitus: A Quantitative Analysis

Authors: Madawi I. Alhassoun, Monirah I. Alenazi, Maryam R. Alanazi, Abeer K. Alagily, Manal Y. Gattan, Loulwah A. Alhammad

DOI: https://doi.org/10.5281/zenodo.13323727

Short DOI: https://doi.org/gt633t

Country: Saudi Arabia

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Abstract: Background: Type 2 diabetes mellitus (T2DM) is a multifactorial disease influenced by both genetic and environmental factors. Understanding the genetic predisposition can aid in identifying individuals at high risk and inform prevention strategies.

Objective: This study investigates the associations between specific genetic variants and T2DM risk, examines gene-environment interactions, and evaluates the utility of polygenic risk scores (PRS) in predicting T2DM susceptibility.

Methods: A cross-sectional study was conducted with 100 participants, including 50 T2DM patients and 50 healthy controls. Genotyping of selected single nucleotide polymorphisms (SNPs) in TCF7L2, PPARG, and KCNJ11 genes was performed. PRS was calculated, and gene-environment interactions were assessed. Statistical analyses included logistic regression and interaction models.

Results: The TCF7L2 variant (rs7903146) showed a strong association with T2DM (OR = 2.45, p = 0.005). The PPARG Pro12Ala variant had a protective effect (OR = 0.52, p = 0.04), and the KCNJ11 E23K variant increased T2DM risk (OR = 1.85, p = 0.04). Higher PRS quartiles were significantly associated with increased T2DM risk (highest vs. lowest quartile: OR = 3.10, p = 0.003). Significant gene-environment interactions were found between TCF7L2 and physical activity (p = 0.02) and between PPARG and diet (p = 0.03).

Conclusion: This study underscores the importance of genetic variants in T2DM risk and highlights the potential of integrating genetic information with lifestyle factors for personalized diabetes prevention strategies.

Keywords: Type 2 diabetes mellitus, genetic variants, polygenic risk score, gene-environment interaction, TCF7L2, PPARG, KCNJ11, personalized medicine.

Paper Id: 231008

Published On: 2023-02-07

Published In: Volume 11, Issue 1, January-February 2023

Cite This: Investigating the Association Between Genetic Variants and Susceptibility to Type 2 Diabetes Mellitus: A Quantitative Analysis - Madawi I. Alhassoun, Monirah I. Alenazi, Maryam R. Alanazi, Abeer K. Alagily, Manal Y. Gattan, Loulwah A. Alhammad - IJIRMPS Volume 11, Issue 1, January-February 2023. DOI 10.5281/zenodo.13323727

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