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

• DOI: 10.1038/s41467-022-28167-1
• Publication Date: 2022-02-02T11:06:03Z
• Authors: Gyda Bjornsdottir; Lilja Stefansdottir; Gudmar Thorleifsson; Patrick Sulem; Kristjan Norland; Egil Ferkingstad; Asmundur Oddsson; Florian Zink; Sigrun H. Lund; Muhammad S. Nawaz; G. Bragi Walters; Astros Th. Skulad...; Sigurjon A. Gudjo...; Gudmundur Einarsson; Gisli H. Halldorsson; Valgerdur Bjarnad...; Gardar Sveinbjorn...; Anna Helgadottir; Unnur Styrkarsdottir; Larus J. Gudmundsson; Ole B. Pedersen; Thomas Folkmann H...; Thomas Werge; Karina Banasik; Anders Troelsen; Soren T. Skou; Lise Wegner Thørner; Christian Erikstrup; Kaspar Rene Nielsen; Susan Mikkelsen; ; Steffen Andersen; Søren Brunak; Kristoffer Burgdorf; Henrik Hjalgrim; Gregor Jemec; Poul Jennum; Per Ingemar Johan...; Kasper Rene Nielsen; Mette Nyegaard; Mie Topholm Bruun; Ole Birger Pedersen; Khoa Manh Dinh; Erik Sørensen; Sisse Ostrowski; Pär Ingemar Johan...; Daniel Gudbjartsson; Hreinn Stefánsson; Unnur Þorsteinsdó...; Margit Anita Høru...; Maria Didriksen; Susanne Sækmose; ; Eleftheria Zeggini; Konstantinos Hatz...; Lorraine Southam; Arthur Gilly; Andrei Barysenka; Joyce B. J. van M...; Cindy G. Boer; André G. Uitterli...; Unnur Styrkársdóttir; Lilja Stefánsdóttir; Helgi Jonsson; Thorvaldur Ingvar...; Tõnu Esko; Reedik Mägi; Maris Teder-Laving; Shiro Ikegawa; Chikashi Terao; Hiroshi Takuwa; Ingrid Meulenbelt; Rodrigo Coutinho ...; Margreet Kloppenburg; Margo Tuerlings; P. Eline Slagboom; Rob R. G. H. H. N...; Ana M. Valdes; Massimo Mangino; Aspasia Tsezou; Eleni Zengini; George Alexiadis; George C. Babis; Kathryn S. E. Cheah; Tian T. Wu; Dino Samartzis; Jason Pui Yin Cheung; Pak Chung Sham; Peter Kraft; Jae Hee Kang; Kristian Hveem; John-Anker Zwart; Almut Luetge; Anne Heidi Skogholt; Marianne B. Johnsen; Laurent F. Thomas; Bendik Winsvold; Maiken E. Gabrielsen; Ming Ta Michael Lee; Yanfei Zhang; Steven A. Lietman; Manu Shivakumar; George Davey Smith; Jonathan H. Tobias; April Hartley; Tom R. Gaunt; Jie Zheng; J. Mark Wilkinson; Julia Steinberg; Andrew P. Morris; Ingileif Jonsdottir; Aron Bjornsson; Ingvar H. Olafsson; Elfar Ulfarsson; Josep Blondal; Arnor Vikingsson; Soren Brunak; Sisse R. Ostrowski; Henrik Ullum; Unnur Thorsteinsd...; Hreinn Stefansson; Daniel F. Gudbjar...; Thorgeir E. Thorg...; Kari Stefansson
• Keywords: Intervertebral Disc; Genome-wide Association Study; Back Pain

Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report genome-wide association study of back using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) intervertebral disc (IDD) (58,854 922,958 controls). We identify 41 variants at 33 loci. The most significant (OR