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Genetic studies of type 2 diabetes, and microvascular complications of diabetes

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Abstract

Genome-wide association studies (GWAS) have significantly advanced the identification of genetic susceptibility variants associated with complex diseases. As of 2023, approximately 800 variants predisposing individuals to the risk of type 2 diabetes (T2D) were identified through GWAS, and the majority of studies were predominantly conducted in European populations. Despite the shared nature of the majority of genetic susceptibility loci across diverse ethnic populations, GWAS in non-European populations, including Japanese and East Asian populations, have revealed population-specific T2D loci. Currently, polygenic risk scores (PRSs), encompassing millions of associated variants, can identify individuals with a higher T2D risk than the general population. However, GWAS focusing on microvascular complications of diabetes have identified a limited number of disease-susceptibility loci. Ongoing efforts are crucial to enhance the applicability of PRS for all ethnic groups and unravel the genetic architecture of microvascular complications of diabetes.

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Acknowledgements

This work is partially supported by Grant from the Okinawa prefecture for promoting collaborative research of innovation and eco system and JSPS KAKENHI Grant Number 23K07992.

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  1. Department of Advanced Genomic and Laboratory Medicine, Graduate School of Medicine, University of the Ryukyus, Nishihara-Cho, Okinawa, 903-0215, Japan

    Minako Imamura & Shiro Maeda

  2. Division of Clinical Laboratory and Blood Transfusion, University of the Ryukyus Hospital, Nishihara-Cho, Okinawa, 930-0215, Japan

    Minako Imamura & Shiro Maeda

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Correspondence to Minako Imamura.

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Imamura, M., Maeda, S. Genetic studies of type 2 diabetes, and microvascular complications of diabetes. Diabetol Int (2024). https://doi.org/10.1007/s13340-024-00727-4

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