title: SNP rs11652075 in the CARD14 gene as a risk factor for psoriasis (PSORS2) in a Spanish cohort.
abstract: 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.
authors.affiliation: 1 Department of Dermatología II, Hospital Universitario Central Asturias , Oviedo, Spain .
authors.forename: Leire
authors.initials: L
authors.lastname: González-Lara
authors.forename: Pablo
authors.initials: P
authors.lastname: Coto-Segura
authors.forename: Ana
authors.initials: A
authors.lastname: Penedo
authors.forename: Noemí
authors.initials: N
authors.lastname: Eiris
authors.forename: Marta
authors.initials: M
authors.lastname: Díaz
authors.forename: Jorge
authors.initials: J
authors.lastname: Santos-Juanes
authors.forename: Rubén
authors.initials: R
authors.lastname: Queiro
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
mesh_terms: D053468:CARD Signaling Adaptor Proteins / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011565:Psoriasis / Q000235:genetics*; D012307:Risk Factors; D013030:Spain / Q000208:ethnology; D044465:White People / Q000235:genetics
chemical_list: D053468:CARD Signaling Adaptor Proteins; D008565:Membrane Proteins; C426243:CARD14 protein, human; D006162:Guanylate Cyclase