期刊
NATURE GENETICS
卷 45, 期 2, 页码 202-207出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2520
关键词
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资金
- National Human Genome Research Institute of the US National Institutes of Health
- National Institute of Arthritis and Musculoskeletal and Skin Diseases of the US National Institutes of Health
- Center for Human Immunology Autoimmunity and Inflammation of the US National Institutes of Health
- Istanbul University Research Fund
- Japanese Ministry of Health, Labor, and Welfare
- Japan Rheumatism Foundation
- Grants-in-Aid for Scientific Research [23590382, 22133002, 22390065, 23659815, 24790338, 23591443] Funding Source: KAKEN
Individuals with Behcet's disease suffer from episodic inflammation often affecting the orogenital mucosa, skin and eyes. To discover new susceptibility loci for Behcet's disease, we performed a genome-wide association study (GWAS) of 779,465 SNPs with imputed genotypes in 1,209 Turkish individuals with Behcet's disease and 1,278 controls. We identified new associations at CCR1, STAT4 and KLRC4. Additionally, two SNPs in ERAP1, encoding ERAP1 p.Asp575Asn and p.Arg725Gln alterations, recessively conferred disease risk. These findings were replicated in 1,468 independent Turkish and/or 1,352 Japanese samples (combined meta-analysis P < 2 x 10(-9)). We also found evidence for interaction between HLA-B*51 and ERAP1 (P = 9 x 10(-4)). The CCR1 and STAT4 variants were associated with gene expression differences. Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and Behcet's disease.
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