Harnessing the Power of Genomics for Early Prediction of Type 2 Diabetes in East Asians
Update 21.06.2022
Scientists perform genomic analysis to uncover genetic factors and traits linked to type 2 diabetes among East Asian individuals
The prevalence of type 2 diabetes (T2D)
represents a major challenge to global health. As current strategies for T2D
management are suboptimal, greater insight into the causal factors is needed. Now,
Korean scientists have adopted genome-wide association studies to discover
genetic factors associated with T2D among East Asians. To date, this is the
largest analysis of T2D data from East Asians, which will facilitate the early
detection and treatment of the disease in this population.
Scientists perform the largest-ever genome-wide analysis of East Asians to provide novel insights into the genetic causes of type 2 diabetes
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Diabetes has been a public health concern for several decades. The most
common type of this complex disorder, type 2 diabetes (T2D), is characterized
by insulin resistance and impaired pancreatic cell function. As with many
chronic disorders, it is now understood that the disease is caused by a
combination of genetic predisposition and environmental variables.
To discover the genetic loci (specific locations on a chromosome)
associated with T2D, several large-scale studies, such as genome-wide
association studies (GWAS), have been conducted. These studies
largely considered people of European heritage. However, among individuals of
similar physical characteristics, T2D is more prevalent in East Asians than in
Europeans. As a result, when previous research findings were applied, the
accuracy of disease prediction dropped as genetic architecture varied among ancestry groups.
In a study published in Nature, a team of scientists from Korea's National Institute of Health, led by Dr. Bong-Jo Kim, collaborated with the National University of Singapore and Japan's Institute of Physical and Chemical Research (RIKEN) to conduct a GWAS analysis of 433,540 East Asians, including Koreans. Dr. Kim emphasizes the significance of their study, "In order to develop precision medicine of value to Koreans, genetic studies on Koreans are required. Our study is the largest genetic analysis of T2D among East Asians, and it was performed on a much larger scale than prior East Asian genomic studies. This study, therefore, is very important in discovering new genes that influence the risk of developing T2D." The study was supported by grants from Korea Centers for Disease Control and Prevention (4845–301, 4851–302, 4851–307) and intramural grants from the Korea National Institute of Health (2016-NI73001-00, 2019-NG-053-00).
The scientists analyzed genome data from 23 cohort
studies that contained information on 77,418 individuals with T2D and 356,122
healthy individuals. Among the studied
populations, the genome information of Korean individuals was assessed using
the Korea Biobank Array, which is a genome microarray optimized for
studying Korean genomes. By analyzing the genomes of Koreans and other East
Asians, the scientists identified 301
distinct T2D genetic signals at 183 loci. Among them, 61 loci were novel
contributors to T2D susceptibility. They discovered new associations near
the genes GDAP1, PTF1A, SIX3, ALDH2, and genes
involved in muscle and adipose differentiation. At another locus, scientists
noted two overlapping T2D genetic signals that impact two genes, NKX6-3
and ANK1, in different tissues.
A strong correlation was observed when genetic factors
for T2D found in East Asian populations were compared to those found in
European populations, offering additional insight into the underlying causes.
When the findings of this study were applied to Korean participants, it was
ascertained that the top 1% of high-risk individuals were almost eight times
more prone to developing T2D than the rest of the population!
Dr. Kim hopes that their study will serve as a basis
for developing customized precision medicine for T2D. He surmises, "The findings of our study enable
preemptive and efficient prevention of diabetes. Moreover, we will be able to
effectively manage this chronic disease through tailored health management and
lifestyle interventions. This study, therefore, represents a major step forward
in lowering socio-economic pressures and improving the quality of life affected
by major chronic diseases, including diabetes ."
There is still a lot of work to be done, but huge
strides have already been made, and the pace is sure to continue!
Reference
Authors Bong-Jo Kim1, Cassandra N. Spracklen2,3, Momoko Horikoshi4, Young Jin Kim1, Kuang Lin5
Title of original paper Identification of type 2 diabetes loci in 433,540 East Asian individuals
Journal Nature
Affiliations 1 Division of Genome Science,
Department of Precision Medicine, National Institute of Health, Republic of
Korea
2Department of Genetics, University of North Carolina at Chapel Hill, USA
3Department of Biostatistics and Epidemiology, School of Public Health and Health Sciences, University of Massachusetts, USA
4Laboratory for
Endocrinology, Metabolism and Kidney Diseases, RIKEN Centre for Integrative Medical
Sciences, Japan
5Nuffield Department of Population Health, University of Oxford, Oxford, UK
Funding information
This work was supported by grants from Korea Centers
for Disease Control and Prevention (4845–301, 4851–302, 4851–307) and
intramural grants from the Korea National Institute of Health (2016-NI73001-00,
2019-NG-053-00)
About National Institute of Health in Korea
The Korea National Institute of Health (KNIH), one
of the major operating components of the Ministry of Health and Welfare, leads
the nation’s medical research. Over the past seven decades, the KNIH has made
unwavering efforts to enhance the public’s health and innovate biomedical
research. The KNIH seeks to eradicate diseases and make people healthier. The
KNIH establishes a scientific basis and evidence underlying health policy as
well as provides national research infrastructures. We also promote public
health research. To this end, we make efforts to enrich a health research
environment by granting funds to research projects and keeping our resources,
data, and facilities more open and accessible to researchers.
Website:
http://www.nih.go.kr/eng/
About Bong-Jo Kim
Dr.
Kim is a head of Division
of Genome Science, Department of Precision Medicine, National Institute of
Health, Korea. His work focuses on population-based genomics
and multi-omics analysis of common complex diseases and rare diseases. He
leads the Korea Biobank Array project, which is an established array of genome
information obtained from about 200,000 Korean individuals.
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