Once a gene is identified, functional studies in biological systems are required to characterize the gene(s). In addition, to decrease heterogeneity and to enrich the genetic component, most studies have focused on Type I psoriasis, i.e. psoriasis of onset before 40 year age. While HLA-B13, -B16, and its splits -B38 and -B39, B17 and Cw6 are associated with psoriasis, with or without arthritis, B27 and B7 are specifically associated with PsA. Keywords: psoriatic arthritis, joint damage, genetic factors, clinical factors. The location of psoriasis, however, may help identify risk. Multiple studies have confirmed that psoriatic nail involvement is a risk factor for psoriatic arthritis. Whereas it remains unclear why psoriatic nail changes are associated with psoriatic arthritis, recent microanatomic studies suggest that one reason may be that the nail matrix is in close physical proximity to the extensor tendon insertion point to the bone of the distal phalanx. 2009;38(4):2515. Keywords: gene, genetics, psoriasis, psoriatic arthritis, review. The evidence from these recent community-based studies supports the association of IA and psoriasis, and there are several explanations for how this increased association occurs. Although several studies have reported a higher frequency of HLA Cw6 in PsA patients compared to controls 22-33, only a few have compared allele frequencies between PsA, psoriasis and controls 22,24,26,31. HLA B38 and B39 have both been associated with PsA, and in one study the association of B38 was independent of psoriasis 26, but neither of these is in LD with Cw6 23,24,26,28,30.
Genome-wide linkage scans have identified multiple loci linked to each disease and revealed overlap with psoriasis and atopic dermatitis susceptibility loci on chromosomes 1q21, 3q21, 17q25 and 20p12. However, these studies have not provided sufficient insights to lead to an identification of the molecular defects underlying the disease. Psoriasis genes associated with this locus are described above. Genet., 38, 713. The many genes associated with psoriasis and the immune response include TNF, IL23, and IL12. Several studies have described the important role of single-nucleotide polymorphisms (SNPs) in the promoter region of the tumour necrosis factor gene (TNF ) 8. Genome-wide linkage studies have noted overlapping regions of significance for these two disorders within and outside the major histocompatibility complex (MHC) region. Psoriasis and psoriatic arthritis (PsA) are clearly complex genetic disorders that result from an interplay between multiple genetic and environmental factors. HLA-B27 is associated with back involvement, while HLA-B38 and HLA-B39 occurred more frequently among patients with peripheral polyarthritis.
Psoriatic arthritis (PsA), an inflammatory arthritis associated with psoriasis, has a wide spectrum of disease severity. In recent years, many genes that contribute to the pathogenesis of psoriasis and PsA have been identified, especially in Western cohorts. 38, 845850 (1995). However only a few genes have been associated to both psoriasis and PsA 4. In this regard gene array studies have generated useful insight in several diseases including systemic lupus erythematosus (SLE) 14, rheumatoid arthritis (RA) 15, and multiple sclerosis (MS) 16. We studied a cohort of 60 patients (38 males and 22 females, mean age: 44 years) affected by PsA, attending the Unit of Autoimmune Diseases, at the University Hospital of Verona, Italy. To analyze the association of several autoimmune disease susceptibility loci in a population of patients with psoriasis and defined joint disease from northern Sweden. Psoriatic arthritis (PsA), an inflammatory joint disease associated with psoriasis, is a heterogeneous disease with various patterns such as mild mono-oligoarthritis or very severe, erosive and destructive polyarthritis indistinguishable from rheumatoid arthritis (RA), or spondyloarthropathy with axial engagement1., psoriasis, RA, and ankylosing spondylitis (AS), linkage and association studies have been undertaken to identify potential susceptibility genes.
The Genetics Of Psoriasis, Psoriatic Arthritis And Atopic Dermatitis
Psoriatic arthritis is a chronic inflammatory arthritis that develops in at least 5 of patients with psoriasis. Juxta-articular new-bone formation (assigned a score of 1). Magnetic resonance imaging studies. According to a recent study involving thousands of psoriatic disease patients, certain genetic factors may increase your chances of getting psoriatic arthritis. To be included in the skin psoriasis group, patients had to have psoriasis for at least 10 years with no signs of psoriatic arthritis. The other variant associated with psoriatic arthritis, known as TNFAIP3, is in an area associated with different immune-mediated diseases. Previous studies have also identified genetic risk factors specific to psoriatic arthritis and genes associated with particular psoriatic arthritis symptoms. Many research groups have focused in these years on psoriasis and have highlighted many different psoriasis susceptibility loci (PSORS), i. Psoriasis and Psoriatic Arthritis are both associated with locus PSORS1, localised in chromosome 6 near the region responsible for codifying the greater system of histocompatibility. Further studies financed by ADIPSO have identified the oversensitivity genes for psoriasis present on this chromosome. Psoriatic arthritis Synovium Immunohistochemistry Synovitis Rheumatoid arthritis Therapy Treatment. Psoriatic arthritis (PsA) is a chronic inflammatory arthropathy of unknown etiology that is associated with psoriasis. This clinical heterogeneity and the difficulty classifying patients with PsA correctly has been a major concern over the years and may have hampered our pathophysiologic understanding of the disease. Several studies have characterized the synovium in PsA compared with RA 15, 18 25, with variable results. HLA antigen frequencies were studied in 158 patients with psoriatic arthritis, and compared to those of 101 patients with uncomplicated psoriasis and 243 healthy controls. Uncomplicated psoriasis patients had higher frequencies of B17, Cw6 and DR7 than patients with psoriatic arthritis, while B7 and B27 correlated with development of arthritis. HLA-B27, Cw2 and DRw52 were associated with back involvement, whereas B38 and B39 were associated with polyarthritis. In the last few years, molecular genetics analyses have permitted novel insights into psoriasis, a disease characterized by uncontrolled proliferation of keratinocytes and recruitment of T cells into the skin. Loci Associated With Psoriasis (PSORS) and Psoriatic Arthritis (PSORSA).
Studies focused on the immunological mechanism have revealed innate and adaptive immune activation in psoriatic lesions, including large numbers of immune cells activated to produce many cytokines, chemokines, and other inflammatory molecules. In this review, we detail the recent advances in the understanding of psoriasis pathogenesis, including the information regarding immunological factors, genetic aspects, and susceptibility genes shared with other autoimmune or inflammatory diseases. The findings of GWAS pertaining to psoriasis and psoriatic arthritis GWAS (Liu et al. The genetic loci associated with psoriasis identified by GWAS.