DNA and Cell Biology · 2013 · 26 citations · 12 references
Life SciencesGeneticsMolecular GeneticsGenetic EpidemiologyHuman GeneticsMedical GeneticsDisease Susceptibility LociGenetic SusceptibilityGenetic Susceptibility To AutoimmunityGenotype-phenotype Association AnalysisGenotype-phenotype CorrelationPsoriatic ArthritisDisease Severity IndexDisease Susceptibility AssociationDisease-specific Risk AllelesGenotype-phenotype AssociationsPsoriatic DiseaseSingle-nucleotide Polymorphism AnalysisSingle-nucleotide Polymorphism Variation
A recent genomic survey identified the association between a common single nucleotide polymorphism (SNP) at the CARD14 gene (SNP rs11652075; p.Arg820Trp) and psoriasis (Psor). Our aim was to replicate the association between this polymorphism and to determine whether other CARD14 variants could explain the association. A total of 400 Psor patients (mean age 47±15; 55% male) and 420 healthy controls (mean age 51±16; 56% male) all Caucasian were genotyped for rs11652075. The rs11652075 CC genotype was significantly associated with Psor in our population (p=0.003; odds ratios=1.59; 95% confidence intervals=1.16-2.19; statistical power >80). The sequencing of the whole CARD14 coding exons in a total of 15 patients did not identify other DNA variants that could explain this association. We did not find significant differences (allele/genotype frequencies) between the patients according to disease severity, presence of arthritis, onset of age, and family history of Psor. We confirmed the association between SNP rs11652075 at the CARD14 gene and Psor. The absence of other coding variants among our patients supported a direct role for this missense polymorphism on Psor risk.
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Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways
Rajan P. Nair, Kristina Callis Duffin, Cynthia Helms et al. · Nature Genetics · 2009 · 1.4K citations · Full text
Life Sciences, Genetics, Immunology +14
PSORS2 Is Due to Mutations in CARD14
Catherine T. Jordan, Li Cao, Elisha Roberson et al. · The American Journal of Human Genetics · 2012 · 415 citations · Full text