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Nature Research, Nature Genetics, 2(45), p. 202-207, 2013

DOI: 10.1038/ng.2520

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Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

Journal article published in 2013 by Yohei Kirino ORCID, Yilmaz Özyazgan, George Bertsias, Yoshiaki Ishigatsubo, Nobuhisa Mizuki, Ilknur Tugal-Tutkun, Emire Seyahi, Yilmaz Ozyazgan, F. Sevgi Sacli, Burak Erer, Hidetoshi Inoko, Zeliha Emrence, Atilla Cakar, Neslihan Abaci, Duran Ustek and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Patients with Behçet's disease (BD) suffer from episodic inflammation often affecting the orogenital mucosa, skin, and eyes. To discover new BD-susceptibility loci, we performed a genome-wide association study (GWAS) of 779,465 SNPs with imputed genotypes in 1,209 Turkish BD patients and 1,278 controls. We identified novel associations at CCR1, STAT4, and KLRC4. Additionally, two SNPs in ERAP1, encoding ERAP1 p.Asp575Asn and p.Arg725Gln, recessively conferred disease risk. These findings replicated in 1,468 independent Turkish and/or 1,352 Japanese samples (combined meta-analysis p