Journal
DIABETOLOGIA
Volume 57, Issue 8, Pages 1528-1541Publisher
SPRINGER
DOI: 10.1007/s00125-014-3270-4
Keywords
Adiposity; Body mass index; Genetics; Genome-wide association; Glycaemic traits; Obesity; Review; Sequencing; Type 2 diabetes
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Funding
- Lundbeck Foundation Centre
- Novo Nordisk Foundation
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During the past 7 years, genome-wide association studies have shed light on the contribution of common genomic variants to the genetic architecture of type 2 diabetes, obesity and related intermediate phenotypes. The discoveries have firmly established more than 175 genomic loci associated with these phenotypes. Despite the tight correlation between type 2 diabetes and obesity, these conditions do not appear to share a common genetic background, since they have few genetic risk loci in common. The recent genetic discoveries do however highlight specific details of the interplay between the pathogenesis of type 2 diabetes, insulin resistance and obesity. The focus is currently shifting towards investigations of data from targeted array-based genotyping and exome and genome sequencing to study the individual and combined effect of low-frequency and rare variants in metabolic disease. Here we review recent progress as regards the concepts, methodologies and derived outcomes of studies of the genetics of type 2 diabetes and obesity, and discuss avenues to be investigated in the future within this research field.
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