A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

Stephan Buch, Clemens Schafmayer, Henry Völzke, Christian Becker, Andre Franke, Huberta von Eller-Eberstein, Christian Kluck, Ingelore Bässmann, Mario Brosch, Frank Lammert, Juan Francisco Miquel, Flavio Nervi, Michael Wittig, Dieter Rosskopf, Birgit Timm, Christine Höll, Marcus Seeger, Abdou ElSharawy, Tim Lu, Jan Egberts, Fred Fändrich, Ulrich R Fölsch, Michael Krawczak, Stefan Schreiber, Peter Nürnberg, Jürgen Tepel, Jochen Hampe
Nature Genetics 2007, 39 (8): 995-9
With an overall prevalence of 10-20%, gallstone disease (cholelithiasis) represents one of the most frequent and economically relevant health problems of industrialized countries. We performed an association scan of >500,000 SNPs in 280 individuals with gallstones and 360 controls. A follow-up study of the 235 most significant SNPs in 1,105 affected individuals and 873 controls replicated the disease association of SNP A-1791411 in ABCG8 (allelic P value P(CCA) = 4.1 x 10(-9)), which was subsequently attributed to coding variant rs11887534 (D19H). Additional replication was achieved in 728 German (P = 2.8 x 10(-7)) and 167 Chilean subjects (P = 0.02). The overall odds ratio for D19H carriership was 2.2 (95% confidence interval: 1.8-2.6, P = 1.4 x 10(-14)) in the full German sample. Association was stronger in subjects with cholesterol gallstones (odds ratio = 3.3), suggesting that His19 might be associated with a more efficient transport of cholesterol into the bile.

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