Psoriasis and psoriatic arthritis: A possible modifying influence of a non-HLA gene in an HLA class I associated disease

• Type: Article in International Scientific Journal
• Date: 2001

Authors

Pereira, C (Author) Other; Pinto, D (Author) Other; Pereira, O (Author) Other; Farinha, F (Author) Other; Massa, A (Author) Other; Cerqueira, J (Author) Other; Pauperio, S (Author) Other; Casimiro, S (Author) Other; Barbosa, P (Author) Other; Vasconcelos, C (Author) ICBAS; Costa, PM (Author) ICBAS; Cardoso, MF (Author) ICBAS; Mendonca, D (Author) ICBAS; Martins Da Silva, B (Author) ICBAS

Journal

Title: European Journal of Immunogenetics

Vol. 28

Final page: 306

ISSN: 0960-7420

Publisher: Blackwell

Indexing

ISI Web of Knowledge

Scopus - 0 Citations

Other information

Authenticus ID: P-007-G8Z

Abstract (EN): Psoriasis (Ps) is a chronic inflammatory skin disease with immunologic and genetic background. Ten to forty % of the patients evolve to an arthritic form of the disease (PsA). Evidences suggest that HLA and CD8+ T cells are involved in the pathogenesis of Ps and PsA. Recent genome scans established the presence of a major psoriasis-susceptibility locus in the 6p21.3 HLA region, within a 60-111 Kb segment telomeric to HLA-C gene. The present study attempts to investigate a possible relationship between OTF3 gene -localised within this interval - and HLA class I loci in the susceptibility and also severity to Ps and PsA as well as the influence of the identified genotype to age at onset of the disease. Forty-seven unrelated individuals with Ps (23 men and 24 women; mean age-42 years) were analysed. Two diagnostic features were considered: presence or not of PsA and age at onset of the disease (early onset psoriasis - EOPs, age at onset ¿15 years and later onset, LOPs, -15 years). HLA typing was performed by PCR-SSP and OTF3 HindIII polymorphism by PCR-RFLP. The results were compared with a group of 47 healthy individuals of the same geographic area. An increased frequency of HLA-Cw*0602 allele was observed in Ps patients (44.7% vs. 18.0% in controls) independently of the occurrence of arthritis; 60.9% of these patients are moderately/severe affected. OTF3-BB genotype was present at a significantly higher frequency in patients than in controls (29.8% vs. 6.4%, p=0.007), namely in less severe forms (38.9%). When EOPs group was considered (12 females and 5 males) this increase was more evident (47.1% vs. 20% in LOPs). The HLA-Cw*0602 frequency was similar in these two groups of patients (47.1% vs. 43.3%, respectively). In PsA patients (n=30) an increased frequency in HLA-B27 allele (22.2% vs. 8,0 in controls) was observed. Conclusions: These results obtained in a Portuguese sample support the known association of HLA-Cw*0602 to Ps. It also established that this association was independent to the age at onset and the presence of arthritis. Additionally, the OTF3 (Hind III) seems to be a better genetic marker than HLA-C for the EOPs and the OTF3-BB genotype may confer an additional susceptibility risk for the development of Ps. These preliminary results suggest: a) the involvement of different genetic markers in the different features of the disease and that b) the candidate Ps susceptibility gene(s) could be located in the interval delimited by OTF3 and HLA-C © 2001 Blackwell Science Ltd,.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 1