Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
- 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
Publication date
December 2018
DOI Publisher
Springer Science and Business Media LLC Journal
Nature CommunicationsAbstract
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 DownloadGallstones 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 × 1
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