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Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association study | Arthritis Research & Therapy
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Keywords {🔍}
disease, behçets, patients, genetic, association, article, controls, dna, study, pubmed, identified, genotyping, table, gene, allele, oklahoma, google, scholar, research, loci, polymorphisms, behcets, cas, analysis, data, susceptibility, pooling, genes, genomewide, cohort, performed, candidate, snps, kiaa, usa, ubashb, risk, university, city, frequency, cpvl, loc, hlab, snp, arthritis, access, associations, ubac, linkage, medical,
Topics {✒️}
genome-wide association study genotyping success rate genetic linkage study t-cell receptor stimulation individual case-control genotyping genotyping single-nucleotide polymorphisms genetic linkage effect affymetrix 500k arrays grant number p20-rr015577 article download pdf pearson chi-square values genetic susceptibility loci protein tyrosine phosphatase single-nucleotide polymorphisms identified international study group dna pooling studies taqman genotyping technology candidate genetic loci tumor necrosis factor receptor tyrosine kinases research ethics committees full access privacy choices/manage cookies single-nucleotide polymorphisms article number r66 revealed genetic associations genechip genotyping 4 related subjects biomed central confer increased susceptibility remains incompletely understood sequencing-based typing single amino acid identified genetic associations article fei genetic association genetic loci european economic area oro-genital ulcers specific immunosuppressive medications institutional review boards initial discovery phase high molecular weight thermo fisher scientific hardy-weinberg equilibrium diverse biological functions experimental autoimmune encephalomyelitis pcr-sbt method normal macrophage function observed genotype frequency
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headline:Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association study
description:Behçet's disease is a chronic systemic inflammatory disease that remains incompletely understood. Herein, we perform the first genome-wide association study in Behçet's disease. Using DNA pooling technology and the Affymetrix 500K arrays, we identified possible candidate gene associations with Behçet's disease in a cohort of 152 Behçet's disease patients and 172 healthy ethnically matched controls. Genetic loci that were identified in the pooling study were genotyped in patients and controls using TaqMan genotyping technology. We identified genetic associations between Behçet's disease and single-nucleotide polymorphisms (SNPs) in KIAA1529, CPVL, LOC100129342, UBASH3B, and UBAC2 (odds ratio = 2.04, 2.26, 1.84, 1.71, and 1.61, respectively; P value = 4.2 × 10-5, 1.0 × 10-4, 3.0 × 10-4, 1.5 × 10-3, and 5.8 × 10-3, respectively). Among the associated SNPs, the Behçet's disease-risk allele in rs2061634 leads to substitution of serine to cysteine at amino acid position 995 (S995C) in the KIAA1529 protein. Using an unbiased whole-genome genetic association approach, we identified novel candidate genetic loci that are associated with increased susceptibility for Behçet's disease. These findings will help to better understand the pathogenesis of Behçet's disease and identify novel targets for therapeutic intervention.
datePublished:2009-05-14T00:00:00Z
dateModified:2009-05-14T00:00:00Z
pageStart:1
pageEnd:7
license:http://creativecommons.org/licenses/by/2.0/
sameAs:https://doi.org/10.1186/ar2695
keywords:
500K Array
Genetic Linkage Study
Central Nervous System Vasculitis
Genotyping Success Rate
Genetic Susceptibility Locus
Rheumatology
Orthopedics
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headline:Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association study
description:Behçet's disease is a chronic systemic inflammatory disease that remains incompletely understood. Herein, we perform the first genome-wide association study in Behçet's disease. Using DNA pooling technology and the Affymetrix 500K arrays, we identified possible candidate gene associations with Behçet's disease in a cohort of 152 Behçet's disease patients and 172 healthy ethnically matched controls. Genetic loci that were identified in the pooling study were genotyped in patients and controls using TaqMan genotyping technology. We identified genetic associations between Behçet's disease and single-nucleotide polymorphisms (SNPs) in KIAA1529, CPVL, LOC100129342, UBASH3B, and UBAC2 (odds ratio = 2.04, 2.26, 1.84, 1.71, and 1.61, respectively; P value = 4.2 × 10-5, 1.0 × 10-4, 3.0 × 10-4, 1.5 × 10-3, and 5.8 × 10-3, respectively). Among the associated SNPs, the Behçet's disease-risk allele in rs2061634 leads to substitution of serine to cysteine at amino acid position 995 (S995C) in the KIAA1529 protein. Using an unbiased whole-genome genetic association approach, we identified novel candidate genetic loci that are associated with increased susceptibility for Behçet's disease. These findings will help to better understand the pathogenesis of Behçet's disease and identify novel targets for therapeutic intervention.
datePublished:2009-05-14T00:00:00Z
dateModified:2009-05-14T00:00:00Z
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500K Array
Genetic Linkage Study
Central Nervous System Vasculitis
Genotyping Success Rate
Genetic Susceptibility Locus
Rheumatology
Orthopedics
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