PuSH - Publication Server of Helmholtz Zentrum München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
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.
Impact Factor
Scopus SNIP
Scopus
Cited By
Altmetric
17.694
3.341
5
Tags
Annotations
Special Publikation
Hide on homepage

Edit extra information
Edit own tags
Private
Edit own annotation
Private
Hide on publication lists
on hompage
Mark as special
publikation
Publication type Article: Journal article
Document type Scientific Article
Language english
Publication Year 2022
HGF-reported in Year 2022
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
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-506700-001
DOI 10.1038/s41467-022-28167-1
PubMed ID 35110524
Erfassungsdatum 2022-12-19
[➜Report correction]