GeneSet Information

Tier I GS269348 • GWAS Catalog Data for mucocutaneous lymph node syndrome in 428 Japanese ancestry cases, 3,379 Japanese ancestry controls

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 Kawasaki disease. The EFO term mucocutaneous lymph node syndrome 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: mucocutaneous lymph node syndrome

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Y Onouchi, K Ozaki, JC Burns, C Shimizu, M Terai, H Hamada, T Honda, H Suzuki, T Suenaga, T Takeuchi, N Yoshikawa, Y Suzuki, K Yasukawa, R Ebata, K Higashi, T Saji, Y Kemmotsu, S Takatsuki, K Ouchi, F Kishi, T Yoshikawa, T Nagai, K Hamamoto, Y Sato, A Honda, H Kobayashi, J Sato, S Shibuta, M Miyawaki, K Oishi, H Yamaga, N Aoyagi, S Iwahashi, R Miyashita, Y Murata, K Sasago, A Takahashi, N Kamatani, M Kubo, T Tsunoda, A Hata, Y Nakamura, T Tanaka

TITLE:

A genome-wide association study identifies three new risk loci for Kawasaki disease.

JOURNAL:

Nature genetics Mar 2012, Vol 44, pp. 517-21

ABSTRACT:

We performed a genome-wide association study (GWAS) of Kawasaki disease in Japanese subjects using data from 428 individuals with Kawasaki disease (cases) and 3,379 controls genotyped at 473,803 SNPs. We validated the association results in two independent replication panels totaling 754 cases and 947 controls. We observed significant associations in the FAM167A-BLK region at 8p22-23 (rs2254546, P = 8.2 × 10(-21)), in the human leukocyte antigen (HLA) region at 6p21.3 (rs2857151, P = 4.6 × 10(-11)) and in the CD40 region at 20q13 (rs4813003, P = 4.8 × 10(-8)). We also replicated the association of a functional SNP of FCGR2A (rs1801274, P = 1.6 × 10(-6)) identified in a recently reported GWAS of Kawasaki disease. Our findings provide new insights into the pathogenesis and pathophysiology of Kawasaki disease. PUBMED: 22446962
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Annotation Information

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mucocutaneous lymph node syndrome (EFO:0004246)

Gene List • 10 Genes

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