Genetic architecture of type 2 diabetes

Kazuo Hara; Nobuhiro Shojima; Jun Hosoe; Takashi Kadowaki

doi:10.1016/j.bbrc.2014.08.012

Genetic architecture of type 2 diabetes

Biochem Biophys Res Commun. 2014 Sep 19;452(2):213-20. doi: 10.1016/j.bbrc.2014.08.012. Epub 2014 Aug 8.

Authors

Kazuo Hara¹, Nobuhiro Shojima¹, Jun Hosoe¹, Takashi Kadowaki²

Affiliations

¹ The Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
² The Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. Electronic address: kadowaki-3im@h.u-tokyo.ac.jp.

PMID: 25111817
DOI: 10.1016/j.bbrc.2014.08.012

Abstract

Genome-wide association studies (GWAS) have identified over 70 loci associated with type 2 diabetes (T2D). Most genetic variants associated with T2D are common variants with modest effects on T2D and are shared with major ancestry groups. To what extent the genetic component of T2D can be explained by common variants relies upon the shape of the genetic architecture of T2D. Fine mapping utilizing populations with different patterns of linkage disequilibrium and functional annotation derived from experiments in relevant tissues are mandatory to track down causal variants responsible for the pathogenesis of T2D.

Keywords: Genome-wide association studies; Linkage disequilibrium; Risk allele frequency; Single nucleotide polymorphism; Type 2 diabetes mellitus.

Publication types

Review

MeSH terms

Chromosome Mapping
Diabetes Mellitus, Type 2 / genetics*
Ethnicity / genetics
Gene Frequency
Genetic Loci*
Genetic Variation
Genome-Wide Association Study
HapMap Project
Humans
Linkage Disequilibrium
Molecular Sequence Annotation