Abstract

Hundreds of research and review articles concerning genome-wide association study (GWAS) in diabetes have been published in the last two decades. We aimed to evaluate the hotspots and future trends in GWAS in diabetes research through bibliometric analysis. Accordingly, 567 research and review articles published between 2001 and 2021 were included. A rising trend was noted in the annual number of publications and citations on GWAS in diabetes during this period. Harvard University and Harvard Medical School have played leading roles in genome research. Hotspot analyses indicated that DNA methylation and genetic variation, especially in type 2 diabetes mellitus, are likely to remain the research hotspots. Moreover, the identification of genetic phenotypes associated with adiposity, metabolic memory, pancreatic islet, and inflammation is the leading trend in this research field. Through this review, we provide predictions on the main research trends in the future so as to shed light on new directions and ideas for further investigations on the genetic etiology of diabetes for its prevention and treatment.

Highlights

  • The 9th edition of the International Diabetes Federation’s Diabetes Atlas has estimated that, presently, 9.3% of adults (463 million people) are living with diabetes [1]

  • We applied the Web of Science Core Collection (WoSCC) using the following search query string: (#1) TS = “genome-wide analysis” or “genome-wide association study” or “whole-genome analysis”; (#2) TS = “diabetes mellitus” or “diabetes” or “hyperglycemia”; (#3) = (#1) AND (#2)

  • A rising trend in publications and citations on genome-wide association study (GWAS) in diabetes was observed during 2001–2021, which suggests that it remains an area of concern

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Summary

Introduction

The 9th edition of the International Diabetes Federation’s Diabetes Atlas has estimated that, presently, 9.3% of adults (463 million people) are living with diabetes [1]. Type 2 diabetes mellitus (T2DM) is the most common type of diabetes with a strong genetic predisposition. Compared with individuals without parental diabetes, the odds ratios (95% confidence interval) for the prevalence of T2DM in those with maternal, paternal, or bilineal diabetes were 3.4 (2.3–4.9), 3.5 (2.3–5.2), and 6.1 (2.9–13.0), respectively [2]. Progress in genome-wide association study (GWAS) and global collaborations in the field of genome projects have enabled the identification of 243 new candidate loci associated with susceptibility to T2DM from 32 European-descent GWAS, including 74,124 T2DM cases [3]. 61 loci newly implicated in T2DM predisposition have been identified in the East Asian population [4].

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