Interpreting type 1 diabetes risk with genetics and single-cell epigenomics
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
Single-cell chromatin accessibility identifies pancreatic islet cell type–and state-specific regulatory programs of diabetes risk
Single-nucleus assay for transposase-accessible chromatin using sequencing (snATAC-
seq) creates new opportunities to dissect cell type–specific mechanisms of complex …
seq) creates new opportunities to dissect cell type–specific mechanisms of complex …
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes
CC Robertson, JRJ Inshaw, S Onengut-Gumuscu… - Nature …, 2021 - nature.com
We report the largest and most diverse genetic study of type 1 diabetes (T1D) to date
(61,427 participants), yielding 78 genome-wide-significant (P< 5× 10− 8) regions, including …
(61,427 participants), yielding 78 genome-wide-significant (P< 5× 10− 8) regions, including …
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
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 …
disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals …
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes
We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls
of diverse ancestry, identifying 40 coding variant association signals (P< 2.2× 10− 7); of …
of diverse ancestry, identifying 40 coding variant association signals (P< 2.2× 10− 7); of …
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes
Abstract Type 2 diabetes (T2D) is a very common disease in humans. Here we conduct a
meta-analysis of genome-wide association studies (GWAS) with~ 16 million genetic variants …
meta-analysis of genome-wide association studies (GWAS) with~ 16 million genetic variants …
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels …
European-descent individuals (9% cases), after imputation to high-density reference panels …
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
KJ Gaulton, T Ferreira, Y Lee, A Raimondo, R Mägi… - Nature …, 2015 - nature.com
We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases
and 57,574 controls of European ancestry. We identified 49 distinct association signals at …
and 57,574 controls of European ancestry. We identified 49 distinct association signals at …
A genome-wide association study identifies novel risk loci for type 2 diabetes
Type 2 diabetes mellitus results from the interaction of environmental factors with a
combination of genetic variants, most of which were hitherto unknown. A systematic search …
combination of genetic variants, most of which were hitherto unknown. A systematic search …
Systematic functional characterization of candidate causal genes for type 2 diabetes risk variants
Most genetic association signals for type 2 diabetes risk are located in noncoding regions of
the genome, hindering translation into molecular mechanisms. Physiological studies have …
the genome, hindering translation into molecular mechanisms. Physiological studies have …