Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Your vote was cast
Thank you for your feedback
Thank you for your feedback
Lund, Sigrun H
Nawaz, Muhammad S
Bragi Walters, G
Skuladottir, Astros Th
Gudjonsson, Sigurjon A
Halldorsson, Gisli H
Gudmundsson, Larus J
Pedersen, Ole B
Hansen, Thomas Folkmann
Skou, Soren T
Thørner, Lise Wegner
Nielsen, Kaspar Rene
Olafsson, Ingvar H
Ostrowski, Sisse R
Gudbjartsson, Daniel F
Thorgeirsson, Thorgeir E
MetadataShow full item record
CitationBjornsdottir G, Stefansdottir L, Thorleifsson G, et al. Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology. Nat Commun. 2022;13(1):634. Published 2022 Feb 2. doi:10.1038/s41467-022-28167-1
AbstractBack 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.
DescriptionTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Download
Rights© 2022. The Author(s).
- Inflammatory microRNA-194 and -515 attenuate the biosynthesis of chondroitin sulfate during human intervertebral disc degeneration.
- Authors: Hu B, Xu C, Tian Y, Shi C, Zhang Y, Deng L, Zhou H, Cao P, Chen H, Yuan W
- Issue date: 2017 Jul 25
- Degeneration of Lumbar Intervertebral Discs: Characterization of Anulus Fibrosus Tissue and Cells of Different Degeneration Grades.
- Authors: Stich S, Jagielski M, Fleischmann A, Meier C, Bussmann P, Kohl B, Schmidt J, Krüger JP, Endres M, Cabraja M, Reimann K, Laue D, Ertel W, Sittinger M
- Issue date: 2020 Mar 21
- The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease.
- Authors: Janeczko Ł, Janeczko M, Chrzanowski R, Zieliński G
- Issue date: 2014 Jan-Feb
- Analysis of intervertebral disc-related genes.
- Authors: Wu DJ, Chen K, Wei XZ, Ni HJ, Yu SZ, Zhu XD, Li M
- Issue date: 2014 Mar 24
- Cartilage intermediate layer protein promotes lumbar disc degeneration.
- Authors: Seki S, Tsumaki N, Motomura H, Nogami M, Kawaguchi Y, Hori T, Suzuki K, Yahara Y, Higashimoto M, Oya T, Ikegawa S, Kimura T
- Issue date: 2014 Apr 18