Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families

Abstract

Our results support the genetic heterogeneity of psoriasis in the Tunisian population, provide confirmatory evidence for a novel psoriasis locus at chromosome 2p12 and reveal a psoriasis family with a mutation at PSORS2.

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).…”

Possible association between germline methylenetetrahydrofolate reductase gene polymorphisms and psoriasis risk in a Turkish population

“…Psoriasis is a complex, multifactorial, systemic disease, and its exact aetiology is largely unknown. Some recent reports using genome‐wide association studies (GWAS) have reported around 40 susceptibility loci linked to psoriasis . However, there is as yet no evidence regarding the specific coding genes that are associated with psoriasis pathogenesis.…”

Critical role of environmental factors in the pathogenesis of psoriasis

“…Genome‐wide association studies (GWAS) have been applied successfully in psoriasis to explore the genetic architecture. Large amounts of data indicate psoriasis‐susceptibility loci or candidate genes (showed in Table ) among different populations, such as PSORS1 that could account for 35–40% in psoriasis in heritability . In brief, the gene variants associated with psoriasis can generally be divided into two categories: immune‐specific and skin‐specific genes .…”

“…Large amounts of data indicate psoriasis-susceptibility loci or candidate genes (showed in Table 2) among different populations, such as PSORS1 that could account for 35-40% in psoriasis in heritability. [13][14][15] In brief, the gene variants associated with psoriasis can generally be divided into two categories: immune-specific and skin-specific genes. 16 Among them, it is worth mentioning that mutations of caspase recruitment domain-containing protein 14 (CARD14) and IL36RN genes have been recognized as responsible genetic factors of generalized pustular psoriasis.…”