Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

• Published in: Nature Communications
• Main Authors: Ferkingstad, Egil, Oddsson, Asmundur, Gretarsdottir, Solveig, Benonisdottir, Stefania, Thorleifsson, Gudmar, Deaton, Aimee M, Jonsson, Stefan, Stefansson, Olafur A, Norddahl, Gudmundur L, Zink, Florian, Arnadottir, Gudny A, Gunnarsson, Bjarni, Halldorsson, Gisli H, Helgadottir, Anna, Jensson, Brynjar O, Kristjansson, Ragnar P, Sveinbjornsson, Gardar, Sverrisson, David A, Masson, Gisli, Olafsson, Isleifur, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Holm, Hilma, Jonsdottir, Ingileif, Olafsson, Sigurdur, Steingrimsdottir, Thora, Rafnar, Thorunn, Bjornsson, Einar S, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Sulem, Patrick, Stefansson, Kari
• Other Authors: 1 deCODE Genetics/Amgen, Inc., Reykjavik, 101, Iceland. 2 Department of Clinical Biochemistry, Landspítali University Hospital, Reykjavik, 101, Iceland. 3 Laboratory in Mjódd (RAM), Reykjavik, 109, Iceland. 4 Department of Clinical Biochemistry, Akureyri Hospital, Akureyri, 600, Iceland. 5 Faculty of Medicine, University of Iceland, Reykjavik, 101, Iceland. 6 Department of Immunology, Landspitali University Hospital, Reykjavik, 101, Iceland. 7 Department of Internal Medicine, Landspitali University Hospital, Reykjavik, 101, Iceland. 8 Department of Obstetrics and Gynecology, Landspitali University Hospital, Reykjavik, 101, Iceland. 9 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, 101, Iceland. 10 deCODE Genetics/Amgen, Inc., Reykjavik, 101, Iceland. [e-mail]. 11 deCODE Genetics/Amgen, Inc., Reykjavik, 101, Iceland. [e-mail]. 12 Faculty of Medicine, University of Iceland, Reykjavik, 101, Iceland. [e-mail].
• Format: Article in Journal/Newspaper
• Language: English
• Published: Nature Publishing Group 2018
• Subjects: Gallsteinar; Gen; Gallstones; Genome-Wide Association Study; Iceland
• Online Access: http://hdl.handle.net/2336/620771; https://doi.org/10.1038/s41467-018-07460-y

To 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 Gallstones are responsible for one of the most common diseases in the Western world and are commonly treated with cholecystectomy. We perform a meta-analysis of two genome-wide association studies of gallstone disease in Iceland and the UK, totaling 27,174 cases and 736,838 controls, uncovering 21 novel gallstone-associated variants at 20 loci. Two distinct low frequency missense variants in SLC10A2, encoding the apical sodium-dependent bile acid transporter (ASBT), associate with an increased risk of gallstone disease (Pro290Ser: OR = 1.36 [1.25-1.49], P = 2.1 × 10