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Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel diseaseJi, Sun-Gou ...Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; -75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest ... genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four new genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with the protective allele (C) predicted to cause nonstop-mediated mRNA decay and lower expression of UBASH3A. Further analyses based on common variants suggested that the genome-wide genetic correlation (rG) between PSC and ulcerative colitis (UC) (rG = 0.29) was significantly greater than that between PSC and Crohn's disease (CD) (rG = 0.04) (P = 2.55 x 10-15). UC and CD were genetically more similar to each other (rG = 0.56) than either was to PSC (P < 1.0 x 10-15). Our study represents a substantial advance in understanding of the genetics of PSC.Source: Nature genetics. - ISSN 1061-4036 (Vol. 49, no. 2, 2017, str. 269-273)Type of material - article, component partPublish date - 2017Language - englishCOBISS.SI-ID - 512682296
Author
Ji, Sun-Gou |
Juran, Brian D |
Mucha, Sören |
Folseraas, Trine |
Jostins, Luke |
Melum, Espen |
Kumasaka, Natsuhiko |
Atkinson, Elizabeth J |
Schlicht, Erik M |
Liu, Jimmy Z
Other authors
Mitrovič, Mitja |
Potočnik, Uroš, 1969-
Topics
autoimmune diseases |
genome-wide association studies |
inflammatory bowel disease
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DRS, in which the journal is indexed
Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Ji, Sun-Gou | |
Juran, Brian D | |
Mucha, Sören | |
Folseraas, Trine | |
Jostins, Luke | |
Melum, Espen | |
Kumasaka, Natsuhiko | |
Atkinson, Elizabeth J | |
Schlicht, Erik M | |
Liu, Jimmy Z | |
Mitrovič, Mitja | 30953 |
Potočnik, Uroš, 1969- | 16340 |
Source: Personal bibliographies
and: SICRIS
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