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Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

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dc.contributor Háskóli Íslands
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 PURE: 72660178
dc.identifier.other PURE UUID: a24b2b17-b60a-4660-b4a6-09053fbbec5e
dc.identifier.other ORCID: /0000-0002-3806-2296/work/123415627
dc.identifier.other Scopus: 85123973763
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 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 Physics and Astronomy (all)
dc.subject Chemistry (all)
dc.subject Biochemistry, Genetics and Molecular Biology (all)
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.pmid 35110524
dc.identifier.doi https://doi.org/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 Deild menntunar og margbreytileika
dc.contributor.department Verkfræðideild
dc.contributor.department Lyfjafræðideild
dc.contributor.department Lyflækninga- og bráðaþjónusta
dc.contributor.department Matvæla- og næringarfræðideild
dc.contributor.department Jarðvísindadeild
dc.contributor.department Önnur svið
dc.contributor.department Rannsóknaþjónusta
dc.contributor.school Heilbrigðisvísindasvið
dc.contributor.school Heilbrigðisvísindasvið


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