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

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  • DBDS Genetic Consortium
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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.

Original languageEnglish
Article number634
JournalNature Communications
Volume13
Issue number1
Pages (from-to)1-13
Number of pages13
ISSN2041-1722
DOIs
Publication statusPublished - 2 Feb 2022

Bibliographical note

© 2022. The Author(s).

    Research areas

  • 3' Untranslated Regions, Bone and Bones/metabolism, Genome-Wide Association Study, Humans, Intervertebral Disc Degeneration/genetics, Intervertebral Disc Displacement/genetics, Intervertebral Disc/metabolism, Sodium Sulfate Cotransporter/genetics, Sulfates/metabolism, Symporters/genetics

ID: 73538209