Rheumatology Medical News about Behcets disease;novel genetic susceptibility loci

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Identification of novel genetic susceptibility loci for Behcets disease using a genome-wide association study
Arthritis Research & Therapy, 05/22/09

Fei Y et al. - Utilizing an unbiased whole-genome genetic association approach, novel candidate genetic loci were identified that are associated with increased susceptibility for Behcet's disease; might help to better understand the pathogenesis of Behcet's disease and identify novel targets for therapeutic intervention.

Methods

A genome-wide association study in Behcet's disease
DNA pooling technology and the Affymetrix 500K array was used to identify possible candidate gene associations with Behcet's disease
Cohort of 152 Behcet's disease pts and 172 healthy ethnically-matched controls
Genetic loci that were identified in the pooling study were genotyped using TaqMan genotyping technology

Results

Genetic associations between Behcet's disease and SNPs in KIAA1529, CPVL, LOC100129342, UBASH3B, and UBAC2 were identified
Among the associated SNPs, the Behcet's disease risk allele in rs2061634 leads to substitution of serine to cysteine at amino acid position 995 (S995C) in the KIAA1529 protein

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