Genetic susceptibility to type 2 diabetes and obesity: from genome-wide association studies to rare variants and beyond

N Grarup, CH Sandholt, T Hansen, O Pedersen - Diabetologia, 2014 - Springer
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 …

Type 2 diabetes: genetic data sharing to advance complex disease research

J Flannick, JC Florez - Nature Reviews Genetics, 2016 - nature.com
As with other complex diseases, unbiased association studies followed by physiological and
experimental characterization have for years formed a paradigm for identifying genes or …

The genetic architecture of type 2 diabetes

C Fuchsberger, J Flannick, TM Teslovich, A Mahajan… - Nature, 2016 - nature.com
The genetic architecture of common traits, including the number, frequency, and effect sizes
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …

A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels

P Dornbos, R Koesterer, A Ruttenburg, T Nguyen… - Nature …, 2022 - nature.com
Polygenic scores (PGSs) combine the effects of common genetic variants, to predict risk or
treatment strategies for complex diseases,,,–. Adding rare variation to PGSs has largely …

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

I Moltke, N Grarup, ME Jørgensen, P Bjerregaard… - Nature, 2014 - nature.com
The Greenlandic population, a small and historically isolated founder population comprising
about 57,000 inhabitants, has experienced a dramatic increase in type 2 diabetes (T2D) …

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

J Flannick, JM Mercader, C Fuchsberger, MS Udler… - Nature, 2019 - nature.com
Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to
disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals …

[HTML][HTML] Lipolysis drives expression of the constitutively active receptor GPR3 to induce adipose thermogenesis

OS Johansen, T Ma, JB Hansen, LK Markussen… - Cell, 2021 - cell.com
Thermogenic adipocytes possess a therapeutically appealing, energy-expending capacity,
which is canonically cold-induced by ligand-dependent activation of β-adrenergic G protein …

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

K Estrada, I Aukrust, L Bjørkhaug, NP Burtt… - Jama, 2014 - jamanetwork.com
Importance Latino populations have one of the highest prevalences of type 2 diabetes
worldwide. Objectives To investigate the association between rare protein-coding genetic …

Inference of the distribution of selection coefficients for new nonsynonymous mutations using large samples

BY Kim, CD Huber, KE Lohmueller - Genetics, 2017 - academic.oup.com
The distribution of fitness effects (DFE) has considerable importance in population genetics.
To date, estimates of the DFE come from studies using a small number of individuals. Thus …

Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes

N Grarup, I Moltke, MK Andersen, M Dalby… - Nature …, 2018 - nature.com
We have identified a variant in ADCY3 (encoding adenylate cyclase 3) associated with
markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The …