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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, Søren 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, Søren; Ostrowski, Sisse R.; Ullum, Henrik; Thorsteinsdottir, Unnur; Stefansson, Hreinn; Gudbjartsson, Daniel F.; Thorgeirsson, Thorgeir E.; Stefansson, Kari; DBDS Genetic Consortium; GO Consortium.
In:
Nature Communications, Vol. 13, 634, 2022.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Bjornsdottir, G, Stefansdottir, L, Thorleifsson, G, Sulem, P, Norland, K, Ferkingstad, E, Oddsson, A, Zink, F, Lund, SH, Nawaz, MS, Bragi Walters, G, Skuladottir, AT, Gudjonsson, SA, Einarsson, G, Halldorsson, GH, Bjarnadottir, V, Sveinbjornsson, G, Helgadottir, A, Styrkarsdottir, U, Gudmundsson, LJ
, Pedersen, OB, Hansen, TF, Werge, T, Banasik, K, Troelsen, A, Skou, ST, Thørner, LW, Erikstrup, C, Nielsen, KR, Mikkelsen, S, Jonsdottir, I, Bjornsson, A, Olafsson, IH, Ulfarsson, E, Blondal, J, Vikingsson, A
, Brunak, S, Ostrowski, SR, Ullum, H, Thorsteinsdottir, U, Stefansson, H, Gudbjartsson, DF, Thorgeirsson, TE, Stefansson, K, DBDS Genetic Consortium & GO Consortium 2022, '
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology',
Nature Communications, vol. 13, 634.
https://doi.org/10.1038/s41467-022-28167-1APA
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., ... GO Consortium (2022).
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Nature Communications,
13, [634].
https://doi.org/10.1038/s41467-022-28167-1Vancouver
Bjornsdottir G, Stefansdottir L, Thorleifsson G, Sulem P, Norland K, Ferkingstad E et al.
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Nature Communications. 2022;13. 634.
https://doi.org/10.1038/s41467-022-28167-1Author
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, Søren 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, Søren ; Ostrowski, Sisse R. ; Ullum, Henrik ; Thorsteinsdottir, Unnur ; Stefansson, Hreinn ; Gudbjartsson, Daniel F. ; Thorgeirsson, Thorgeir E. ; Stefansson, Kari ; DBDS Genetic Consortium ; GO Consortium. / Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology. In: Nature Communications. 2022 ; Vol. 13.
Bibtex
@article{4b29a6a8c6d94e388f68132404f9b4be,
title = "Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology",
abstract = "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.",
author = "Gyda Bjornsdottir and Lilja Stefansdottir and Gudmar Thorleifsson and Patrick Sulem and Kristjan Norland and Egil Ferkingstad and Asmundur Oddsson and Florian Zink and Lund, {Sigrun H.} and Nawaz, {Muhammad S.} and {Bragi Walters}, G. and Skuladottir, {Astros Th} and Gudjonsson, {Sigurjon A.} and Gudmundur Einarsson and Halldorsson, {Gisli H.} and Valgerdur Bjarnadottir and Gardar Sveinbjornsson and Anna Helgadottir and Unnur Styrkarsdottir and Gudmundsson, {Larus J.} and Pedersen, {Ole B.} and Hansen, {Thomas Folkmann} and Thomas Werge and Karina Banasik and Anders Troelsen and Skou, {S{\o}ren T.} and Th{\o}rner, {Lise Wegner} and Christian Erikstrup and Nielsen, {Kaspar Rene} and Susan Mikkelsen and Ingileif Jonsdottir and Aron Bjornsson and Olafsson, {Ingvar H.} and Elfar Ulfarsson and Josep Blondal and Arnor Vikingsson and S{\o}ren Brunak and Ostrowski, {Sisse R.} and Henrik Ullum and Unnur Thorsteinsdottir and Hreinn Stefansson and Gudbjartsson, {Daniel F.} and Thorgeirsson, {Thorgeir E.} and Kari Stefansson and {DBDS Genetic Consortium} and {GO Consortium}",
note = "Correction: https://doi.org/10.1038/s41467-022-30129-6 Publisher Copyright: {\textcopyright} 2022. The Author(s).",
year = "2022",
doi = "10.1038/s41467-022-28167-1",
language = "English",
volume = "13",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",
}
RIS
TY - JOUR
T1 - Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
AU - Bjornsdottir, Gyda
AU - Stefansdottir, Lilja
AU - Thorleifsson, Gudmar
AU - Sulem, Patrick
AU - Norland, Kristjan
AU - Ferkingstad, Egil
AU - Oddsson, Asmundur
AU - Zink, Florian
AU - Lund, Sigrun H.
AU - Nawaz, Muhammad S.
AU - Bragi Walters, G.
AU - Skuladottir, Astros Th
AU - Gudjonsson, Sigurjon A.
AU - Einarsson, Gudmundur
AU - Halldorsson, Gisli H.
AU - Bjarnadottir, Valgerdur
AU - Sveinbjornsson, Gardar
AU - Helgadottir, Anna
AU - Styrkarsdottir, Unnur
AU - Gudmundsson, Larus J.
AU - Pedersen, Ole B.
AU - Hansen, Thomas Folkmann
AU - Werge, Thomas
AU - Banasik, Karina
AU - Troelsen, Anders
AU - Skou, Søren T.
AU - Thørner, Lise Wegner
AU - Erikstrup, Christian
AU - Nielsen, Kaspar Rene
AU - Mikkelsen, Susan
AU - Jonsdottir, Ingileif
AU - Bjornsson, Aron
AU - Olafsson, Ingvar H.
AU - Ulfarsson, Elfar
AU - Blondal, Josep
AU - Vikingsson, Arnor
AU - Brunak, Søren
AU - Ostrowski, Sisse R.
AU - Ullum, Henrik
AU - Thorsteinsdottir, Unnur
AU - Stefansson, Hreinn
AU - Gudbjartsson, Daniel F.
AU - Thorgeirsson, Thorgeir E.
AU - Stefansson, Kari
AU - DBDS Genetic Consortium
AU - GO Consortium
N1 - Correction: https://doi.org/10.1038/s41467-022-30129-6
Publisher Copyright:
© 2022. The Author(s).
PY - 2022
Y1 - 2022
N2 - 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.
AB - 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.
U2 - 10.1038/s41467-022-28167-1
DO - 10.1038/s41467-022-28167-1
M3 - Journal article
C2 - 35110524
AN - SCOPUS:85123973763
VL - 13
JO - Nature Communications
JF - Nature Communications
SN - 2041-1723
M1 - 634
ER -
