Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci

Background & Aims A limited number of genetic risk factors have been reported in primary sclerosing cholangitis (PSC). To discover further genetic susceptibility factors for PSC, we followed up on a second tier of single nucleotide polymorphisms (SNPs) from a genome-wide association study (GWAS)...

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Veröffentlicht in:	Journal of hepatology 2012-08, Vol.57 (2), p.366-375
Hauptverfasser:	Folseraas, Trine, Melum, Espen, Rausch, Philipp, Juran, Brian D, Ellinghaus, Eva, Shiryaev, Alexey, Laerdahl, Jon K, Ellinghaus, David, Schramm, Christoph, Weismüller, Tobias J, Gotthardt, Daniel Nils, Hov, Johannes Roksund, Clausen, Ole Petter, Weersma, Rinse K, Janse, Marcel, Boberg, Kirsten Muri, Björnsson, Einar, Marschall, Hanns-Ulrich, Cleynen, Isabelle, Rosenstiel, Philip, Holm, Kristian, Teufel, Andreas, Rust, Christian, Gieger, Christian, Wichmann, H-Erich, Bergquist, Annika, Ryu, Euijung, Ponsioen, Cyriel Y, Runz, Heiko, Sterneck, Martina, Vermeire, Severine, Beuers, Ulrich, Wijmenga, Cisca, Schrumpf, Erik, Manns, Michael P, Lazaridis, Konstantinos N, Schreiber, Stefan, Baines, John F, Franke, Andre, Karlsen, Tom H
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Bile - microbiology Biological and medical sciences Child Child, Preschool Cholangitis, Sclerosing - genetics Cholangitis, Sclerosing - microbiology Clinical Medicine Female Fucosyltransferases - genetics Fucosyltransferases - physiology Galactoside 2-alpha-L-fucosyltransferase Gastroenterologi och hepatologi Gastroenterology and Hepatology Gastroenterology. Liver. Pancreas. Abdomen Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Genotype Humans Immunogenetics Klinisk medicin Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Middle Aged Neprilysin - genetics Other diseases. Semiology Polymorphism, Single Nucleotide Primary sclerosing cholangitis Receptors, Tumor Necrosis Factor, Member 14 - genetics Risk Single nucleotide polymorphism
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Zusammenfassung:	Background & Aims A limited number of genetic risk factors have been reported in primary sclerosing cholangitis (PSC). To discover further genetic susceptibility factors for PSC, we followed up on a second tier of single nucleotide polymorphisms (SNPs) from a genome-wide association study (GWAS). Methods We analyzed 45 SNPs in 1221 PSC cases and 3508 controls. The association results from the replication analysis and the original GWAS (715 PSC cases and 2962 controls) were combined in a meta-analysis comprising 1936 PSC cases and 6470 controls. We performed an analysis of bile microbial community composition in 39 PSC patients by 16S rRNA sequencing. Results Seventeen SNPs representing 12 distinct genetic loci achieved nominal significance ( preplication
ISSN:	0168-8278 1600-0641 1600-0641 0168-8278
DOI:	10.1016/j.jhep.2012.03.031