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

2018; Nature Portfolio; Volume: 9; Issue: 1 Linguagem: Inglês

10.1038/s41467-018-07460-y

2041-1723

Egil Ferkingstad, Ásmundur Oddsson, Sólveig Grétarsdóttir, Stefania Benónísdóttir, Guðmar Þorleifsson, Aimée M. Deaton, Stefan Jonsson, Ólafur Andri Stefánsson, Gudmundur L. Norddahl, Florian Zink, Gudny A. Arnadottir, Bjarni Gunnarsson, Gísli H. Halldórsson, Anna Helgadóttir, Brynjar Ö. Jensson, Ragnar P. Kristjansson, Garðar Sveinbjörnsson, David A. Sverrisson, Gísli Másson, Ísleifur Ólafsson, Guðmundur I. Eyjólfsson, Ólöf Sigurðardóttir, Hilma Hólm, Ingileif Jónsdóttir, Sigurdur Olafsson, Þóra Steingrímsdóttir, Þórunn Rafnar, Einar S. Björnsson, Unnur Þorsteinsdóttir, Daníel F. Guðbjartsson, Patrick Sulem, Kári Stéfansson,

Drug Transport and Resistance Mechanisms

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