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- Title
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
- Authors
Buch, Stephan; Schafmayer, Clemens; Völzke, Henry; Becker, Christian; Franke, Andre; von Eller-Eberstein, Huberta; Kluck, Christian; Bässmann, Ingelore; Brosch, Mario; Lammert, Frank; Miquel, Juan Francisco; Nervi, Flavio; Wittig, Michael; Rosskopf, Dieter; Timm, Birgit; Höll, Christine; Seeger, Marcus; ElSharawy, Abdou; Tim Lu; Egberts, Jan
- Abstract
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 PCCA = 4.1 × 10−9), which was subsequently attributed to coding variant rs11887534 (D19H). Additional replication was achieved in 728 German (P = 2.8 × 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 × 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.
- Subjects
GERMANY; CHILE; GALLSTONES; CHOLESTEROL; BILIARY tract; MEDICAL research; HUMAN gene mapping
- Publication
Nature Genetics, 2007, Vol 39, Issue 8, p995
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng2101