Diabetes Metab J.  2011 Feb;35(1):12-22. 10.4093/dmj.2011.35.1.12.

Sulwon Lecture 2009: The Search for Genetic Risk Factors of Type 2 Diabetes Mellitus

Affiliations
  • 1Department of Internal Medicine and Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University College of Medicine, Seoul, Korea. kspark@snu.ac.kr

Abstract

Type 2 diabetes mellitus (T2DM) is caused by complex interplay between multiple genetic and environmental factors. The three major approaches used to identify the genetic susceptibility include candidate gene approach, familial linkage analysis and genome- wide association analysis. Recent advance in genome-wide association studies have greatly improved our understanding of the pathophysiology of T2DM. As of the end of 2010, there are more than 40 confirmed T2DM-associated genetic loci. Most of the T2DM susceptibility genes were implicated in decreased beta-cell function. However, these genetic variations have a modest effect and their combination only explains less than 10% of the T2DM heritability. With the advent of the next-generation sequencing technology, we will soon identify rare variants of larger effect as well as causal variants. These advances in understanding the genetics of T2DM will lead to the development of new therapeutic and preventive strategies and individualized medicine.

Keyword

Diabetes mellitus, type 2; Gene; Genome-wide association studies; Heritability; Next generation sequencing; Single nucleotide polymorphism

MeSH Terms

Diabetes Mellitus, Type 2
Genetic Loci
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study
Precision Medicine
Polymorphism, Single Nucleotide
Risk Factors

Figure

  • Fig. 1 Susceptibility genes of type 2 diabetes mellitus in Koreans (modified from Textbook of endocrinology and metabolism. Korean Endocrine Society. 2nd ed. Seoul: Koonja Publishing; 2011. Section 9, Genetics of diabetes mellitus; p641-4. Used with permission) [63].


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