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Background <p>Type 2 diabetes mellitus (T2DM) is a significant global health challenge, with increasing morbidity and mortality, particularly in developing countries. Understanding the genetic underpinnings of T2DM is crucial for developing effective preventive and therapeutic strategies. Recent advances in genomics, particularly genome-wide association studies (GWAS), have identified multiple susceptibility loci, but the genetic architecture of T2DM remains complex and incompletely understood.</p> &#xa0;Objective <p>This review aims to systematically summarize GWAS progress on T2DM susceptibility loci, highlights the genetic heterogeneity across populations, and discusses recent findings from East Asian cohorts, particularly in China, Japan, and Korea, that have uncovered novel T2DM-related loci.</p> Methods <p>A comprehensive literature review was conducted using data from global consortia and published GWAS studies, including the PubMed, DIAGRAM, WTCCC, NHGRI, GoT2D, and T2D-GENES.</p> Results <p>Significant loci such as <i>TCF7L2</i>, <i>FTO</i>, and <i>PPARG</i> have been consistently identified in European populations, while new loci, including <i>PTPRD</i>, <i>SRR</i>, <i>GRK5</i>, <i>RASGRP1</i>, <i>PAX4</i>, <i>GDAP1</i>, <i>PTF1A</i>, <i>SIX3</i>, and <i>ALDH2</i>, have been discovered in East Asian populations. The review also highlights the functional significance of these loci and their potential impact on early diagnosis and precision medicine for T2DM.</p> Conclusion <p>T2DM’s genetic susceptibility is influenced by both common and rare variants, with considerable heterogeneity observed across different populations. Despite the progress made through large-scale GWAS, gaps remain in understanding the full genetic landscape of T2DM, especially the identification of rare variants with large effects. Advancements in sequencing technologies and multi-omics approaches are essential to further elucidate the molecular mechanisms underlying these associations. This review underscores the need for population-specific studies to refine risk prediction models and enhance intervention strategies for T2DM in developing countries.</p>

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Advances in genome-wide association studies of type 2 diabetes across populations:   A systematic review

  • 期刊论文

  • 发表日期：

    2025年7月9日

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  • Zheng-qiu Li,
  • Dae-jung Yang

摘要

Background

Type 2 diabetes mellitus (T2DM) is a significant global health challenge, with increasing morbidity and mortality, particularly in developing countries. Understanding the genetic underpinnings of T2DM is crucial for developing effective preventive and therapeutic strategies. Recent advances in genomics, particularly genome-wide association studies (GWAS), have identified multiple susceptibility loci, but the genetic architecture of T2DM remains complex and incompletely understood.

 Objective

This review aims to systematically summarize GWAS progress on T2DM susceptibility loci, highlights the genetic heterogeneity across populations, and discusses recent findings from East Asian cohorts, particularly in China, Japan, and Korea, that have uncovered novel T2DM-related loci.

Methods

A comprehensive literature review was conducted using data from global consortia and published GWAS studies, including the PubMed, DIAGRAM, WTCCC, NHGRI, GoT2D, and T2D-GENES.

Results

Significant loci such as TCF7L2, FTO, and PPARG have been consistently identified in European populations, while new loci, including PTPRD, SRR, GRK5, RASGRP1, PAX4, GDAP1, PTF1A, SIX3, and ALDH2, have been discovered in East Asian populations. The review also highlights the functional significance of these loci and their potential impact on early diagnosis and precision medicine for T2DM.

Conclusion

T2DM’s genetic susceptibility is influenced by both common and rare variants, with considerable heterogeneity observed across different populations. Despite the progress made through large-scale GWAS, gaps remain in understanding the full genetic landscape of T2DM, especially the identification of rare variants with large effects. Advancements in sequencing technologies and multi-omics approaches are essential to further elucidate the molecular mechanisms underlying these associations. This review underscores the need for population-specific studies to refine risk prediction models and enhance intervention strategies for T2DM in developing countries.