T2DKP Summary Statistic Downloads

This page lists datasets whose summary statistic files are hosted at the T2DKP.

View downloads across all diseases and traits on the Association to Function Knowledge Portal Downloads page.

Dataset name in T2DKPPublication (ordered by publication date, most recent first)PhenotypesDownloads
All of Us 2024 T2D WGS: trans-ancestryRare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes.
Wessel J, et al.
medRxiv preprint
Type 2 diabetes

Summary statistics

Rare variant results: AoU_v6-noncoding-rare-genecentric_09-25-2023_SH_AKM.csv
AoU_v6-noncoding-rare-genecentric_no_tfbs_09-25-2023_SH_AKM.csv
AoU_v6-noncoding-rare-hubcentric_09-25-2023_SH.csv
AoU_v6-noncoding-rare-regulomecentric_09-25-2023_SH_AKM.csv

TOPMed 2024 T2D WGS: trans-ancestryRare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes.
Wessel J, et al.
medRxiv preprint
Type 2 diabetes

Summary statistics

Rare variant results: TOPMed_T2D_AdjBMI_smmat_gene_centric_0.01pct_2022Oct13_09-25-2023_SH.csv
TOPMed_T2D_AdjBMI_smmat_gene_centric_no_tfbs_0.01pct_2022Oct13_09-25-2023_SH.csv
TOPMed_T2D_AdjBMI_smmat_hub_centric_0.01pct_2022Oct13_09-25-2023_SH.csv
TOPMed_T2D_AdjBMI_smmat_regulomecentric_0.01pct_2022Oct13_09-25-2023_SH.csv

(Dataset not yet incorporated into the T2DKP)Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A, et al.
Nat Genet. 2024 Oct 8. doi: 10.1038/s41588-024-01947-9.
PMID: 39379762
Type 2 diabetes

Summary statistics

README

(Dataset not yet incorporated into the T2DKP)Genetic architecture of oral glucose-stimulated insulin release provides biological insights into type 2 diabetes aetiology.
Madsen AL, Bonàs-Guarch S, et al.
Nat Metab. 2024 Oct 17. doi: 10.1038/s42255-024-01140-6.
PMID:  39420167
Pancreatic beta cell function traits

Summary statistics

README

ProDiGY 2024 youth-onset T2D exome sequence analysis: trans-ancestryGenetic architecture and biology of youth-onset type 2 diabetes.
Kwak S, et al.
Nat Metab. 2024 Jan 26. doi: 10.1038/s42255-023-00970-0.
PMID:  38278947 
Youth-onset type 2 diabetes

Single-variant summary statistics

Gene-level associations

Chronic kidney disease progression 2023 GWAS: trans-ancestry, African American, and European ancestriesGenome-Wide Association Study of CKD Progression.
Robinson-Cohen C, et al.
J Am Soc Nephrol. 2023 Jun 1. doi: 10.1681/ASN.0000000000000170.
PMID: 37261792
Renal

Summary statistics: trans-ancestry, eGFR decline with diabetes

Summary statistics: trans-ancestry, eGFR decline without diabetes

Summary statistics: African American ancestry, eGFR decline with diabetes

Summary statistics: African American ancestry, eGFR decline without diabetes

Summary statistics: European ancestry, eGFR decline with diabetes

Summary statistics: European ancestry, eGFR decline without diabetes

SUGAR-MGH 2023 sulfonylurea and metformin response GWAS: trans-ancestryGenome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH.
Li JH, Brenner LN, Kaur V, et al.
Diabetologia. 2023 May 26. doi: 10.1007/s00125-023-05922-7.
PMID: 37233759
Pharmacogenomic

Summary statistics

README

Additional information

Dietary intake 2022 GWAS: European ancestryGenetic analysis of dietary intake identifies new loci and functional links with metabolic traits.
Merino J, Dashti HS, Sarnowski C, et al.
Nat Hum Behav. 2022 Jan;6(1):155-163. doi: 10.1038/s41562-021-01182-w.
PMID: 34426670
Nutritional

Download files

README

Fasting proinsulin 2023 GWAS: European ancestryLoci for insulin processing and secretion provide insight into type 2 diabetes risk.
Broadaway KA, et al.
Am J Hum Genet. 2023 Jan 18;S0002-9297(23)00002-2. doi: 10.1016/j.ajhg.2023.01.002.
PMID: 36693378
Glycemic

Summary statistics

README

Triglyceride levels in T2D 2022 GWAS: European ancestry; Triglyceride levels in non-T2D 2022 GWAS: European ancestryGenome-wide discovery for diabetes-dependent triglycerides-associated loci.
Selvaraj MS, et al.
PMID: 36269708
Diabetic complicationsTG levels in T2D
TG levels in non-T2D
Type 2 diabetes TOPMed imputed 2023 GWAS: Hispanic ancestryThe power of TOPMed imputation for the discovery of Latino enriched rare variants associated with type 2 diabetes.
Huerta-Chagoya A, et al.
Diabetologia. 2023 May 6. doi: 10.1007/s00125-023-05912-9.
PMID: 37148359
Glycemic

Summary statistics

README

DIAMANTE T2D 2022 GWASMulti-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.
Mahajan A, Spracklen CN, Zhang W, Ng MCY, Petty LE, Kitajima H, Yu GZ, Rüeger S, Speidel L, et al.
Nat Genet. 2022 May 12. doi: 10.1038/s41588-022-01058-3..
PMID: 35551307
Glycemic

Download GWAS summary statistics (trans-ancestry; East Asian, European, and South Asian ancestries)

Download fine-mapping results

GENIE 2022 DKD GWASGenome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease.
Sandholm N, Cole JB, et al., Diabetologia. 2022 Jun 28. doi: 10.1007/s00125-022-05735-0.
PMID: 35763030
Diabetic complications

CKD
Microalbuminuria
Macroalbuminuria
ESRD vs. macroalbuminuria
ESRD vs. all
ESRD
CKD extremes
CKD-DKD
All vs. control
Severe DKD

README

MRI-based organ age 2022 GWAS: European ancestryUsing deep learning to predict abdominal age from liver and pancreas magnetic resonance images.
Le Goallec A, et al.
Nat Commun. 2022 Apr 13;13(1):1979. doi: 10.1038/s41467-022-29525-9.
PMID:35418184
Predicted abdominal ageSummary statistics
Additive model 2022 T2D GWAS: European ancestryRecessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes.
O'Connor MJ, et al.
Diabetes. 2022 Mar 1;71(3):554-565. doi: 10.2337/db21-0545..
PMID:34862199
GlycemicSummary statistics
ProDiGY 2021 GWASThe First Genome-Wide Association Study for Type 2 Diabetes in Youth: The Progress in Diabetes Genetics in Youth (ProDiGY) Consortium.
Srinivasan S, et al.
Diabetes. 2021 Apr;70(4):996-1005. doi: 10.2337/db20-0443.
PMID:33479058
GlycemicSummary statistics
(Dataset not integrated into CMDKP)Genome-wide gene-diet interaction analysis in the UK Biobank identifies novel effects on Hemoglobin A1c.
Westerman K, et al.
Hum Mol Genet. 2021 Aug 28;30(18):1773-1783. doi: 10.1093/hmg/ddab109.
PMID:33864366
GlycemicSummary statistics and README (19GB)
GERA age-related GWASThe impact of non-additive genetic associations on age-related complex diseases.
Guindo-Martínez M, et al.
Nat Commun. 2021 Apr 23;12(1):2436. doi: 10.1038/s41467-021-21952-4.
PMID:33893285
Multiple age-related diseases

Download files

README

Smoking-Genotype Interaction for T2D and FGSmoking-by-genotype interaction in type 2 diabetes risk and fasting glucose.
Wu P, et al.
PLoS One 2020 May 7;15(5):e0230815. doi: 10.1371/journal.pone.0230815.
PMID:32379818
Glycemic

Download files

README

PR interval 1000G GWASMulti-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction.
Ntalla I, Weng L-C, et al..
Nature Communications (2020) 11:2542 doi:10.1038/s41467-020-15706-x
ECG Traits

Download summary statistics - all | README

Download summary statistics - Europeans | README

UK Biobank Cardiac MRI LV GWASAnalysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.
Pirruccello J, et al.

Nat Commun. 2020 May 7;11(1):2254. doi: 10.1038/s41467-020-15823-7.
PMID:32382064
CardiovascularSummary statistics for:
Left ventricular end-diastolic volume |
Left ventricular end-diastolic volume  (BSA-indexed) |
Left ventricular ejection fraction |
Left ventricular end-systolic volume |
Left ventricular end-systolic volume (BSA-indexed) |
Stroke volume |
Stroke volume (BSA-indexed) |
README
AGEN and DIAMANTE T2D GWASIdentification of type 2 diabetes loci in 433,540 East Asian individuals.
Spracklen C, Horikoshi M, Kim YJ, Lin K, et al.
Nature 2020.
https://doi.org/10.1038/s41586-020-2263-3
Type 2 diabetes

Download files 

 README

UK Biobank dietary habit GWASComprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations.
Cole JB, Florez JC, Hirschhorn JN.
Nat Commun. 2020; 11: 1467. doi: 10.1038/s41467-020-15193-0.
PMID:32193382
Dietary habits

Download files (40 GB) 

 README

UK Biobank atrial fibrillation exome sequence analysisMonogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank.
Choi SH, Jurgens SJ, et al.

Circ Res, 126 (2), 200-209 2020 Jan 17. doi: 10.1161/CIRCRESAHA.119.315686.
PMID:31691645
Atrial fibrillationGene-level association scores | README
HERMES Heart Failure GWASGenome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure.
Shah S, Henry A, et al.

Nat Commun. 2020 Jan 9;11(1):163. doi: 10.1038/s41467-019-13690-5.
PMID:31919418
Cardiovascular

Download files 

README

JDRF Diabetic Nephropathy Collaborative Research Initiative GWASGenome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen.
Salem, R.M., et al.
J Am Soc Nephrol. 2019 Oct;30(10):2000-2016. doi: 10.1681/ASN.2019030218.
PMID:31537649
RenalDownload files
Diabetic retinopathy GWASMultiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Pollack S, et al. Diabetes. 2019 Feb; 68(2): 441–456. doi: 10.2337/db18-0567. PMID:30487263OcularDownload African American ancestry files
Download European ancestry files
README
SIGMA exome chip analysisA Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes. Mercader M, et al., Diabetes 2017 Nov;66(11):2903-2914. doi: 10.2337/db17-0187. PMID:28838971GlycemicDownload files
README
GWAS SIGMASequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. SIGMA Type 2 Diabetes Consortium, et al., Nature. 2014 Feb 6;506(7486):97-101. doi: 10.1038/nature12828. PMID:24390345GlycemicDownload files
README
AMP T2D-GENES exome sequence analysis: SIGMA cohortsAssociation of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. SIGMA Type 2 Diabetes Consortium, et al., JAMA 2014 Jun 11;311(22):2305-14. doi: 10.1001/jama.2014.6511. PMID:24915262GlycemicDownload files
README