dc.contributor | Landbúnaðarháskóli Íslands |
dc.contributor | Landspítali |
dc.contributor.author | Nielsen, K.R. |
dc.contributor.author | Pedersen, O.B. |
dc.contributor.author | Sørensen, E. |
dc.contributor.author | Ostrowski, S. |
dc.contributor.author | Johansson, P.I. |
dc.contributor.author | Gudbjartsson, D. |
dc.contributor.author | Stefansson, H. |
dc.contributor.author | Larsen, M.A.H. |
dc.contributor.author | Didriksen, M. |
dc.contributor.author | Sækmose, S. |
dc.contributor.author | Zeggini, E. |
dc.contributor.author | Hatzikotoulas, K. |
dc.contributor.author | Southam, L. |
dc.contributor.author | Gilly, A. |
dc.contributor.author | Barysenka, A. |
dc.contributor.author | van Meurs, J.B.J. |
dc.contributor.author | Boer, C.G. |
dc.contributor.author | Uitterlinden, A.G. |
dc.contributor.author | Styrkársdóttir, U. |
dc.contributor.author | Stefánsdóttir, L. |
dc.contributor.author | Esko, T. |
dc.contributor.author | Mägi, R. |
dc.contributor.author | Teder-Laving, M. |
dc.contributor.author | Ikegawa, S. |
dc.contributor.author | Terao, C. |
dc.contributor.author | Takuwa, H. |
dc.contributor.author | Meulenbelt, I. |
dc.contributor.author | Coutinho de Almeida, R. |
dc.contributor.author | Kloppenburg, M. |
dc.contributor.author | Tuerlings, M. |
dc.contributor.author | Slagboom, P.E. |
dc.contributor.author | Nelissen, R.R.G.H.H. |
dc.contributor.author | Valdes, A.M. |
dc.contributor.author | Mangino, M. |
dc.contributor.author | Tsezou, A. |
dc.contributor.author | Zengini, E. |
dc.contributor.author | Alexiadis, G. |
dc.contributor.author | Babis, G.C. |
dc.contributor.author | Cheah, K.S.E. |
dc.contributor.author | Wu, T.T. |
dc.contributor.author | Samartzis, D. |
dc.contributor.author | Cheung, J.P.Y. |
dc.contributor.author | Sham, P.C. |
dc.contributor.author | Kraft, P. |
dc.contributor.author | Kang, J.H. |
dc.contributor.author | Hveem, K. |
dc.contributor.author | Zwart, J.-A. |
dc.contributor.author | Luetge, A. |
dc.contributor.author | Skogholt, A.H. |
dc.contributor.author | Johnsen, M.B. |
dc.contributor.author | Thomas, L.F. |
dc.contributor.author | Winsvold, B. |
dc.contributor.author | Gabrielsen, M.E. |
dc.contributor.author | Lee, M.T.M. |
dc.contributor.author | Zhang, Y. |
dc.contributor.author | Lietman, S.A. |
dc.contributor.author | Shivakumar, M. |
dc.contributor.author | Smith, G.D. |
dc.contributor.author | Tobias, J.H. |
dc.contributor.author | Hartley, A. |
dc.contributor.author | Gaunt, T.R. |
dc.contributor.author | Zheng, J. |
dc.contributor.author | Wilkinson, J.M. |
dc.contributor.author | Steinberg, J. |
dc.contributor.author | Morris, A.P. |
dc.contributor.author | Ulfarsson, E. |
dc.contributor.author | Blondal, J. |
dc.contributor.author | Brunak, S. |
dc.contributor.author | Ostrowski, S.R. |
dc.contributor.author | Ullum, H. |
dc.contributor.author | Þorsteinsdóttir, U. |
dc.contributor.author | Stefansson, H. |
dc.contributor.author | Gudbjartsson, D.F. |
dc.contributor.author | Thorgeirsson, T.E. |
dc.contributor.author | Stefansson, K. |
dc.contributor.author | DBDS Genetic Consortium |
dc.contributor.author | GO Consortium |
dc.date.accessioned | 2023-01-25T01:05:24Z |
dc.date.available | 2023-01-25T01:05:24Z |
dc.date.issued | 2022-02-02 |
dc.identifier.citation | Nielsen , K R , Pedersen , O B , Sørensen , E , Ostrowski , S , Johansson , P I , Gudbjartsson , D , Stefansson , H , Larsen , M A H , Didriksen , M , Sækmose , S , Zeggini , E , Hatzikotoulas , K , Southam , L , Gilly , A , Barysenka , A , van Meurs , J B J , Boer , C G , Uitterlinden , A G , Styrkársdóttir , U , Stefánsdóttir , L , Esko , T , Mägi , R , Teder-Laving , M , Ikegawa , S , Terao , C , Takuwa , H , Meulenbelt , I , Coutinho de Almeida , R , Kloppenburg , M , Tuerlings , M , Slagboom , P E , Nelissen , R R G H H , Valdes , A M , Mangino , M , Tsezou , A , Zengini , E , Alexiadis , G , Babis , G C , Cheah , K S E , Wu , T T , Samartzis , D , Cheung , J P Y , Sham , P C , Kraft , P , Kang , J H , Hveem , K , Zwart , J-A , Luetge , A , Skogholt , A H , Johnsen , M B , Thomas , L F , Winsvold , B , Gabrielsen , M E , Lee , M T M , Zhang , Y , Lietman , S A , Shivakumar , M , Smith , G D , Tobias , J H , Hartley , A , Gaunt , T R , Zheng , J , Wilkinson , J M , Steinberg , J , Morris , A P , Ulfarsson , E , Blondal , J , Brunak , S , Ostrowski , S R , Ullum , H , Þorsteinsdóttir , U , Stefansson , H , Gudbjartsson , D F , Thorgeirsson , T E , Stefansson , K , DBDS Genetic Consortium & GO Consortium 2022 , ' Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology ' , Nature Communications , vol. 13 , no. 1 , 634 , pp. 634 . https://doi.org/10.1038/s41467-022-28167-1 |
dc.identifier.issn | 2041-1723 |
dc.identifier.other | 72660178 |
dc.identifier.other | a24b2b17-b60a-4660-b4a6-09053fbbec5e |
dc.identifier.other | ORCID: /0000-0002-3806-2296/work/123415627 |
dc.identifier.other | 85123973763 |
dc.identifier.other | 35110524 |
dc.identifier.other | unpaywall: 10.1038/s41467-022-28167-1 |
dc.identifier.uri | https://hdl.handle.net/20.500.11815/3898 |
dc.description | Publisher Copyright: © 2022, The Author(s). |
dc.description.abstract | Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes. |
dc.format.extent | 2337466 |
dc.format.extent | 634 |
dc.language.iso | |
dc.relation.ispartofseries | Nature Communications; 13(1) |
dc.rights | info:eu-repo/semantics/openAccess |
dc.subject | Heila- og taugaskurðlæknisfræði |
dc.subject | Gigtarlæknisfræði |
dc.subject | Náttúrufræðingar |
dc.subject | Intervertebral Disc Degeneration |
dc.subject | Intervertebral Disc Displacement |
dc.subject | Back Pain |
dc.subject | Genome-Wide Association Study |
dc.subject | Bone and Bones/metabolism |
dc.subject | Intervertebral Disc/metabolism |
dc.subject | Humans |
dc.subject | Symporters/genetics |
dc.subject | Sodium Sulfate Cotransporter/genetics |
dc.subject | Sulfates/metabolism |
dc.subject | Intervertebral Disc Degeneration/genetics |
dc.subject | Intervertebral Disc Displacement/genetics |
dc.subject | 3' Untranslated Regions |
dc.subject | General Physics and Astronomy |
dc.subject | General Chemistry |
dc.subject | General Biochemistry,Genetics and Molecular Biology |
dc.title | Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology |
dc.type | /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article |
dc.description.version | Peer reviewed |
dc.identifier.doi | 10.1038/s41467-022-28167-1 |
dc.relation.url | http://www.scopus.com/inward/record.url?eid=2-s2.0-85123973763&partnerID=MN8TOARS |
dc.relation.url | http://www.scopus.com/inward/record.url?scp=85123973763&partnerID=8YFLogxK |
dc.contributor.department | Skrifstofa þjónustusviðs |
dc.contributor.department | Raunvísindadeild |
dc.contributor.department | Læknadeild |
dc.contributor.department | Kvenna- og barnaþjónusta |
dc.contributor.department | Iðnaðarverkfræði-, vélaverkfræði- og tölvunarfræðideild |
dc.contributor.department | Verkfræðideild |
dc.contributor.department | Lyflækninga- og bráðaþjónusta |
dc.contributor.department | Matvæla- og næringarfræðideild |
dc.contributor.department | Önnur svið |
dc.contributor.school | Heilbrigðisvísindasvið |
dc.contributor.school | Heilbrigðisvísindasvið |