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Bjornsdottir, G.* ; Stefansdottir, L.* ; Thorleifsson, G.* ; Sulem, P.* ; Norland, K.* ; Ferkingstad, E.* ; Oddsson, A.* ; Zink, F.* ; Lund, S.H.* ; Nawaz, M.S.* ; Bragi Walters, G.* ; Skuladottir, A.T.* ; Gudjonsson, S.A.* ; Einarsson, G.* ; Halldorsson, G.H.* ; Bjarnadottir, V.* ; Sveinbjornsson, G.* ; Helgadottir, A.* ; Styrkarsdottir, U.* ; Gudmundsson, L.J.* ; Pedersen, O.B.* ; Hansen, T.F.* ; Werge, T.* ; Banasik, K.* ; Troelsen, A.* ; Skou, S.T.* ; Thørner, L.W.* ; Erikstrup, C.* ; Nielsen, K.R.* ; Mikkelsen, S.* ; Jonsdottir, I.* ; Björnsson, A.* ; Olafsson, I.H.* ; Ulfarsson, E.* ; Blondal, J.* ; Vikingsson, A.* ; Brunak, S.* ; Ostrowski, S.R.* ; Ullum, H.* ; Thorsteinsdottir, U.* ; Stefansson, H.* ; Gudbjartsson, D.F.* ; Thorgeirsson, T.E.* ; Stefansson, K.* ; GO Consortium (Zeggini, E.) ; GO Consortium (Hatzikotoulas, K.) ; GO Consortium (Southam, L.) ; GO Consortium (Gilly, A.) ; GO Consortium (Barysenska, A.) ; GO Consortium (Steinberg, J.)

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

Nat. Commun. 13:634 (2022)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Journal Nature Communications
Quellenangaben Volume: 13, Issue: 1, Pages: , Article Number: 634 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)