GWAS Summary Statistic Downloads |
Other Data Downloads |
View downloads across all diseases and traits on the Association to Function Knowledge Portal Downloads page.
GWAS Summary Statistic Downloads
| Dataset name in MSK-KP | Publication | Download |
|---|---|---|
| Dietary intake 2022 GWAS: European ancestry | Genetic 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 | |
| Genetics of Osteoarthritis (GO) Consortium GWAS | Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. Boer CG, Hatzikotoulas K, Southam L, et al. Cell. 2021 Nov 24;184(24):6003-6005. doi: 10.1016/j.cell.2021.11.003 PMID:34822786 | KP.Format.AllOA.gwama.plotting.gz.minus9sout.gz KP.Format.ThumbOA.gwama.plotting.gz.minus9sout.gz KP.Format.TKR.gwama.plotting.gz.minus9sout.gz KP.Format.TJR.gwama.plotting.gz.minus9sout.gz KP.Format.THR.gwama.plotting.gz.minus9sout.gz KP.Format.SpineOA.gwama.plotting.gz.minus9sout.gz KP.Format.KneeOA.gwama.plotting.gz.minus9sout.gz KP.Format.KneeHipOA.gwama.plotting.gz.minus9sout.gz KP.Format.HipOA.gwama.plotting.gz.minus9sout.gz KP.Format.HandOA.gwama.plotting.gz.minus9sout.gz KP.Format.FingerOA.gwama.plotting.gz.minus9sout.gz KP.Format.GO.RAW.final.meta.results.Early_AllOA.txt.gz KP.Format.GO.FILTER.GW.ThumbOA.FULL.09052019.txt.gz KP.Format.GO.FILTER.GW.TKR.FULL.09052019.txt.gz KP.Format.GO.FILTER.GW.TJR.FULL.09052019.txt.gz KP.Format.GO.FILTER.GW.THR.FULL.09052019.txt.gz KP.Format.GO.FILTER.GW.SpineOA.FULL.09052019.txt.gz KP.Format.GO.FILTER.GW.KneeOA.FULL.09052019.txt.gz KP.Format.GO.FILTER.GW.KneeHipOA.FULL.09052019.txt.gz KP.Format.GO.FILTER.GW.HipOA.FULL.09052019.txt.gz KP.Format.GO.FILTER.GW.HandOA.FULL.09052019.txt.gz KP.Format.GO.FILTER.GW.AllOA.FULL.09052019.txt.gz KP.Format.GO.FILTER.GW.FingerOA.FULL.09052019.txt.gz README Summary statistics and README for all samples except UK Biobank participants (all phenotypes) |
| Muscle weakness GWAS | Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Jones G, et al. Nat Commun. 2021 Jan 28;12(1):654. doi: 10.1038/s41467-021-20918-w. PMID:33510174 | Download (GWAS Catalog) |
| 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 | Download (GEFOS) |
| 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 | Download (GEFOS) |
| UK Biobank-arcOGEN osteoarthritis GWAS Meta-analysis | Identification of New Therapeutic Targets for Osteoarthritis Through Genome-Wide Analyses of UK Biobank Data. Tachmazidou I, et al. Nat Genet. 2019 Feb; 51(2): 230–236. doi: 10.1038/s41588-018-0327-1 PMID:30664745 | Download (GWAS Catalog) |
| GEFOS Any-type of 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 | Download (GEFOS) |
| Life-course total body BMD GWAS | Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. Medina-Gomez C, et al. Am J Hum Genet. 2018 Jan 4; 102(1): 88–102. doi: 10.1016/j.ajhg.2017.12.005 PMID:29304378 | Download (GEFOS) |
| UK Biobank eBMD GWAS | Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. Kemp JP, Morris JA, Medina-Gomez Cet al. Nat Genet. 2017 Oct; 49(10): 1468–1475. doi: 10.1038/ng.3949 PMID:28869591 | Download (GEFOS) |
| Pediatric musculoskeletal traits GWAS | Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. Medina-Gomez C, et al. Nat Commun. 2017; 8: 121.doi: 10.1038/s41467-017-00108-3 PMID:28743860 | Download (GEFOS) |
| Lean body mass GWAS | Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. Zillikens MC, et al. Nat Commun. 2017 Jul 19;8(1):80. doi: 10.1038/s41467-017-00031-7. PMID:28724990 | Download (GEFOS) |
| UK10K BMD GWAS | Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Zheng H-F, et al. Nature. 2015 Oct 1;526(7571):112-7. doi: 10.1038/nature14878. PMID:26367794 | Download (GEFOS) |
| GEFOS LS- FN- BMD(2) 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 | Download (GEFOS) |
Other Data Downloads
| Publication | Downloads |
|---|---|
| Primary cartilage transcriptional signatures reflect cell type-specific molecular pathways underpinning osteoarthritis Katsoula G, et al. Provisionally accepted for publication, Am J Hum Genet 2024. | Differential gene expression results between low and high grade cartilage: Header | Data file Mendelian randomization results for genes in prioritized networks: Header | Data file Genes in prioritized networks that are drug targets: Header | Data file Genes associated with knock-out mouse musculoskeletal phenotypes or human OMIM musculoslkeletal conditions: Header | Data file |
| Response eQTLs, chromatin accessibility, and 3D chromatin structure in chondrocytes provide mechanistic insight into osteoarthritis risk. Kramer NE, et al. Submitted for publication, 2024. bioRxiv preprint | eQTLs, articular chondrocytes treated with PBS eQTLs, articular chondrocytes treated with fibronectin fragment README |
| Epigenomic profiling of the infrapatellar fat pad in osteoarthritis. Kreitmaier P, et al. Hum Mol Genet. 2023 Nov 17:ddad198. doi: 10.1093/hmg/ddad198. PMID: 37975894 | methylation QTLs, infrapatellar fat pad (76 GB) README |
| An epigenome-wide view of osteoarthritis in primary tissues. Kreitmaier P, et al. Am J Hum Genet. 2022 Jun 3;S0002-9297(22)00216-6. doi: 10.1016/j.ajhg.2022.05.010. PMID: 35679866 | methylation QTLs, low-grade cartilage methylation QTLs, high-grade cartilage methylation QTLs, synovium |
| A molecular quantitative trait locus map for osteoarthritis. Steinberg J, et al. Nat Commun. 2021; 12: 1309. doi: 10.1038/s41467-021-21593-7 PMID:33637762 | eQTLs, low-grade cartilage eQTLs, high-grade cartilage eQTLs, synovium pQTLs, low-grade cartilage pQTLs, high-grade cartilage Differential gene expression and differential protein abundance, high-grade vs. low-grade cartilage |