MSK-KP Downloads

Musculoskeletal associations

Dataset name in MSK-KP Publication Phenotypes Download
GEFOS eBMD and Fracture GWAS An atlas of genetic influences on osteoporosis in humans and mice. Morris JA, et al. Nat Genet 2019 Feb;51(2):258-266. doi: 10.1038/s41588-018-0302-x. PMID:30598549 Musculoskeletal Download site
GEFOS Fracture GWAS Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study. Trajanoska K, et al. BMJ. 2018 Aug 29;362:k3225. doi: 10.1136/bmj.k3225. PMID:30158200 Musculoskeletal Download site
GEFOS BMD GWAS Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Estrada K, et al. Nat Genet. 2012 Apr 15;44(5):491-501. doi: 10.1038/ng.2249. PMID:22504420 Musculoskeletal Download site
Bone size GWAS GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures. Styrkarsdottir U, et al. Nat Commun. 2019 May 3;10(1):2054. doi: 10.1038/s41467-019-09860-0. PMID:31053729 Musculoskeletal Download site

Other associations

Dataset name in MSK-KP Publication Phenotypes Download site
GIANT UK Biobank GWAS Meta-analysis of genome-wide association studies for height and body mass index in ~700,000 individuals of European ancestry. Yengo, L., et al., Hum Mol Genet. 2018 Aug 16. doi: 10.1093/hmg/ddy271. PMID:30124842 Anthropometric Download site
DIAGRAM 1000G GWAS An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. Scott, R.A., et al.
, Diabetes. 2017 Nov;66(11):2888-2902. doi: 10.2337/db16-1253. PMID:28566273 Glycemic Download site
MAGIC HbA1c GWAS (all ancestries) 



Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. Wheeler, E., et al.
, PLoS Med. 2017 Sep 12;14(9):e1002383. doi: 10.1371/journal.pmed.1002383. PMID:28898252 Glycemic Download site
CKDGen 1000G GWAS 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Gorski, M., et al.
, Sci Rep. 2017 Apr 28;7:45040. doi: 10.1038/srep45040. PMID:28452372 Renal Download site
GIANT GWAS - stratified by physical activity Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Graff, M., et al., PLoS Genet. 2017 Apr 27;13(4):e1006528. doi: 10.1371/journal.pgen.1006528. PMID:28448500 Anthropometric Download site
MAGIC GWAS 

Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. Walford, G.A., Gustafsson, S., Rybin, D., et al.
, Diabetes. 2016 Oct;65(10):3200-11. doi: 10.2337/db16-0199. PMID:27416945 Glycemic Download site
gnomAD exomes Analysis of protein-coding genetic variation in 60,706 humans. Lek, M., et al., Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. PMID:27535533 No phenotype Download site
gnomAD whole genomes Analysis of protein-coding genetic variation in 60,706 humans. Lek, M., et al., Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. PMID:27535533 No phenotype Download site
CKDGen 1000G GWAS - stratified UACR associations Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. Teumer, A., et al.
, Diabetes. 2016 Mar;65(3):803-17. doi: 10.2337/db15-1313. PMID:26631737 Renal Download site
Body Fat Percentage GWAS New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Lu, Y., et al.
, Nat Commun. 2016 Feb 1;7:10495. doi: 10.1038/ncomms10495. PMID:26833246 Anthropometric Download site
DIAGRAM Trans-ethnic meta-analysis Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Gaulton, K.J., et al.
, Nat Genet. 2015 Dec;47(12):1415-25. doi: 10.1038/ng.3437. PMID:26551672 Glycemic Download site
CARDIoGRAMplusC4D GWAS A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nikpay, M., et al.
, Nat Genet. 2015 Oct;47(10):1121-30. doi: 10.1038/ng.3396. PMID:26343387 Cardiovascular Download site
1000 Genomes A global reference for human genetic variation. 1000 Genomes Project Consortium, et al.
, Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. PMID:26432245 No phenotype Download site
GIANT Anthropometric 2015 Waist GWAS New genetic loci link adipose and insulin biology to body fat distribution. Shungin, D., et al., Nature. 2015 Feb 12;518(7538):187-196. doi: 10.1038/nature14132. PMID:25673412 Anthropometric Download site
GLGC GWAS Discovery and refinement of loci associated with lipid levels. Willer, C.J., et al., Nat Genet. 2013 Nov;45(11):1274-83. doi: 10.1038/ng.2797. PMID:24097068 Lipids Download site
Heart Rate GWAS Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. den Hoed, M., et al., Nat Genet. 2013 Jun;45(6):621-31. doi: 10.1038/ng.2610. PMID:23583979 Cardiovascular Download site
GIANT GWAS FTO genotype is associated with phenotypic variability of body mass index. Yang, J., et al., Nature. 2012 Oct 11;490(7419):267-72. doi: 10.1038/nature11401. PMID:22982992 Anthropometric Download site
MAGIC Metabochip GWAS 



Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Scott, R.A., et al.
, Nat Genet. 2012 Sep;44(9):991-1005. doi: 10.1038/ng.2385. PMID:22885924 Glycemic Download site
Early Growth Genetics Consortium GWAS A genome-wide association meta-analysis identifies new childhood obesity loci. Bradfield, J.P., et al.
, Nat Genet. 2012 May;44(5):526-31. doi: 10.1038/ng.2247. PMID:22484627 Anthropometric Download site