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.

The common CARD14 gene missense polymorphism rs11652075 (c.C2458T/p.Arg820Trp) is associated with psoriasis: a meta-analysis

“…However, some investigations with small sample sizes have obtained contrasting results (González-Lara et al, 2013;Qin et al, 2014). Functional studies of this SNP have not provided further verification.…”

“…After selection and data extraction according to our inclusion criteria, five studies were included in our analysis, comprising 32,807 cases and 45,458 controls (Jordan et al, 2012;Tsoi et al, 2012;González-Lara et al, 2013;Qin et al, 2014;Tang et al, 2014; Table 1). Data from each subgroup were treated as independent.…”

“…From the five studies, a total of 17 datasets were used in the final analysis. Five subgroups from three studies involved Asian subjects (Jordan et al, 2012;Qin et al, 2014;Tang et al, 2014), and 12 subgroups from three studies concerned those of European ancestry (Jordan et al, 2012;Tsoi et al, 2012;González-Lara et al, 2013). As most studies did not categorize samples based on clinical subtype (psoriasis vulgaris or psoriasis arthritis), our analysis did not take this factor into account.…”

“…Although studies performed in different ethnic groups have suggested that certain CARD14 rs11652075 alleles may confer susceptibility to psoriasis, not all investigations have supported this association (González-Lara et al, 2013;Qin et al, 2014), leading to inconsistent conclusions. Hence, we performed a meta-analysis of all eligible studies to derive a more precise estimation of the association between the rs11652075 SNP and risk of psoriasis.…”

CARD14-Mediated Activation of Paracaspase MALT1 in Keratinocytes: Implications for Psoriasis

“…Since then, several studies have reported associations of CARD14 variants with psoriasis vulgaris, psoriatic arthritis, generalized pustular psoriasis, and palmoplantar pustular psoriasis (Ammar et al, 2013(Ammar et al, , 2016Eskin-Schwartz et al, 2016;Feng et al, 2016;Gonzalez-Lara et al, 2013;Inoue et al, 2016;Korber et al, 2013;Mossner et al, 2015;Qin et al, 2014;Sugiura et al, 2014Sugiura et al, , 2015Zhu et al, 2016). Furthermore, CARD14 variants have also been associated with pityriasis rubra pilaris, a distinct inflammatory skin disease characterized by keratotic follicular papules and salmon-colored erythematous plaques (Eytan et al, 2014;Fuchs-Telem et al, 2012;Has et al, 2016;Inoue et al, 2016;Li et al, 2015).…”