Genetics, Natural History, and Pathophysiology of Beh^et^s Disease

National Institute Of Arthritis And Musculoskeletal And Skin Diseases

Investigators

Abstract

During the reporting period we have made substantial progress in initiating a genome-wide association study for Behet's disease susceptibility loci. In collaboration with the new NIH Intramural Center for Human Immunology, we have established an Illumina Beadstation facility for high-throughput single nucleotide polymorphism (SNP) genotyping. In parallel, we have established a collaboration with Dr. Ahmet Gul of the University of Istanbul. With informed consent, Dr. Gul has obtained DNA samples from 1000 Turkish cases of Behet's disease, and 1000 geographically matched controls. Using the Illumina Beadstation and an SNP chip that interrogates 370,000 SNPs, including copy number variants, we have begun genotyping. At present we have genotyped 337 cases and 190 controls. As expected, the association of HLA-B with Behet's disease has already reached genome-wide significance, but the data for non-HLA loci are too preliminary to report at present.