Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 91, Issue 4, Pages 721-728Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2012.08.010
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Funding
- Japan Society for the Promotion of Science [20590800, 23591006]
- NHO
- Ministry of Health, Labor, and Welfare of Japan
- Ministry of Education, Culture, Sports, Science, and Technology of Japan (MEAT)
- Grants-in-Aid for Scientific Research [22590344, 24790728, 23591006, 20590800, 22590748, 22133008] Funding Source: KAKEN
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For the identification of susceptibility loci for primary binary cirrhosis (PBC), a genome-wide association study (GWAS) was performed in 963 Japanese individuals (487 PBC cases and 476 healthy controls) and in a subsequent replication study that included 1,402 other Japanese individuals (787 cases and 615 controls). In addition to the most significant susceptibility region, human leukocyte antigen (HLA), we identified two significant susceptibility loci, TNFSF15 (rs4979462) and POU2AF1 (rs4938534) (combined odds ratio [OR] = 1.56, p = 2.84 x 10(-14) for rs4979462, and combined OR = 1.39, p = 2.38 x 10(-8) for rs4938534). Among 21 non-HLA susceptibility loci for PBC identified in GWASs of individuals of European descent, three loci (IL7R, IKZF3, and CD80) showed significant associations (combined p = 3.66 x 10(-8), 3.66 x 10(-9), and 3.04 x 10(-9), respectively) and STAT4 and NFKB1 loci showed suggestive association with PBC (combined p = 1.11 x 10(-6) and 1.42 x 10(-7), respectively) in the Japanese population. These observations indicated the existence of ethnic differences in genetic susceptibility loci to PBC and the importance of TNF signaling and B cell differentiation for the development of PBC in individuals of European descent and Japanese individuals.
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