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

Bjornsdottir, Gyda ; Stefansdottir, Lilja ; Thorleifsson, Gudmar ; Sulem, Patrick ; Norland, Kristjan ; Ferkingstad, Egil ; Oddsson, Asmundur ; Zink, Florian ; Lund, Sigrun H ; Nawaz, Muhammad S ; Bragi Walters, G ; Skuladottir, Astros Th ; Gudjonsson, Sigurjon A ; Einarsson, Gudmundur ; Halldorsson, Gisli H ; Bjarnadottir, Valgerdur ; Sveinbjornsson, Gardar ; Helgadottir, Anna ; Styrkarsdottir, Unnur ; Gudmundsson, Larus J ; Pedersen, Ole B ; Hansen, Thomas Folkmann ; Werge, Thomas ; Banasik, Karina ; Troelsen, Anders ; Skou, Soren T ; Thørner, Lise Wegner ; Erikstrup, Christian ; Nielsen, Kaspar Rene ; Mikkelsen, Susan ; Jonsdottir, Ingileif ; Bjornsson, Aron ; Olafsson, Ingvar H ; Ulfarsson, Elfar ; Blondal, Josep ; Vikingsson, Arnor ; Brunak, Soren ; Ostrowski, Sisse R ; Ullum, Henrik ; Thorsteinsdottir, Unnur ; Stefansson, Hreinn ; Gudbjartsson, Daniel F ; Thorgeirsson, Thorgeir E ; Stefansson, Kari

Nature communications, 2022-02, Vol.13 (1), p.634-634, Article 634 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
Autor: Bjornsdottir, Gyda ; Stefansdottir, Lilja ; Thorleifsson, Gudmar ; Sulem, Patrick ; Norland, Kristjan ; Ferkingstad, Egil ; Oddsson, Asmundur ; Zink, Florian ; Lund, Sigrun H ; Nawaz, Muhammad S ; Bragi Walters, G ; Skuladottir, Astros Th ; Gudjonsson, Sigurjon A ; Einarsson, Gudmundur ; Halldorsson, Gisli H ; Bjarnadottir, Valgerdur ; Sveinbjornsson, Gardar ; Helgadottir, Anna ; Styrkarsdottir, Unnur ; Gudmundsson, Larus J ; Pedersen, Ole B ; Hansen, Thomas Folkmann ; Werge, Thomas ; Banasik, Karina ; Troelsen, Anders ; Skou, Soren T ; Thørner, Lise Wegner ; Erikstrup, Christian ; Nielsen, Kaspar Rene ; Mikkelsen, Susan ; Jonsdottir, Ingileif ; Bjornsson, Aron ; Olafsson, Ingvar H ; Ulfarsson, Elfar ; Blondal, Josep ; Vikingsson, Arnor ; Brunak, Soren ; Ostrowski, Sisse R ; Ullum, Henrik ; Thorsteinsdottir, Unnur ; Stefansson, Hreinn ; Gudbjartsson, Daniel F ; Thorgeirsson, Thorgeir E ; Stefansson, Kari
Assuntos: 3' Untranslated Regions ; Back pain ; Biology ; Bone and Bones - metabolism ; Cartilage ; Genes ; Genome-wide association studies ; Genome-Wide Association Study ; Genomes ; Humans ; Inflammation ; Intervertebral Disc - metabolism ; Intervertebral Disc Degeneration - genetics ; Intervertebral Disc Displacement - genetics ; Intervertebral discs ; Loci ; Pain ; Sodium Sulfate Cotransporter - genetics ; Sodium Sulfate Cotransporter - metabolism ; Sulfates ; Sulfates - metabolism ; Sulfotransferase ; Symporters - genetics ; Symporters - metabolism
É parte de: Nature communications, 2022-02, Vol.13 (1), p.634-634, Article 634
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Descrição: 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 (OR = 0.92, P = 1.6 × 10 ; OR = 0.92, P = 7.2 × 10 ) 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 ); 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.
Editor: England: Nature Publishing Group
Idioma: Inglês

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

England: Nature Publishing Group

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