DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Primary biliary cirrhosis. The EFO term biliary liver cirrhosis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: biliary liver cirrhosis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

M Nakamura, N Nishida, M Kawashima, Y Aiba, A Tanaka, M Yasunami, H Nakamura, A Komori, M Nakamuta, M Zeniya, E Hashimoto, H Ohira, K Yamamoto, M Onji, S Kaneko, M Honda, S Yamagiwa, K Nakao, T Ichida, H Takikawa, M Seike, T Umemura, Y Ueno, S Sakisaka, K Kikuchi, H Ebinuma, N Yamashiki, S Tamura, Y Sugawara, A Mori, S Yagi, K Shirabe, A Taketomi, K Arai, K Monoe, T Ichikawa, M Taniai, Y Miyake, T Kumagi, M Abe, K Yoshizawa, S Joshita, S Shimoda, K Honda, H Takahashi, K Hirano, Y Takeyama, K Harada, K Migita, M Ito, H Yatsuhashi, N Fukushima, H Ota, T Komatsu, T Saoshiro, J Ishida, H Kouno, H Kouno, M Yagura, M Kobayashi, T Muro, N Masaki, K Hirata, Y Watanabe, Y Nakamura, M Shimada, N Hirashima, T Komeda, K Sugi, M Koga, K Ario, E Takesaki, Y Maehara, S Uemoto, N Kokudo, H Tsubouchi, M Mizokami, Y Nakanuma, K Tokunaga, H Ishibashi

TITLE:

Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

JOURNAL:

American journal of human genetics Oct 2012, Vol 91, pp. 721-8

ABSTRACT:

For the identification of susceptibility loci for primary biliary 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 × 10(-14) for rs4979462, and combined OR = 1.39, p = 2.38 × 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 × 10(-8), 3.66 × 10(-9), and 3.04 × 10(-9), respectively) and STAT4 and NFKB1 loci showed suggestive association with PBC (combined p = 1.11 × 10(-6) and 1.42 × 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. PUBMED: 23000144
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