HLA-A,B,C, DRB1 and DQB alleles on a Portuguese Rheumatoid Arthritis population

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

Authors

Alves, H (Author) Other; Maia, C (Author) Other; Carlos Vaz (Author) FMUP; Fernandes, M (Author) Other; Almeida, G (Author) Other; Dias, M (Author) Other; Dias, A (Author) Other; Mendes, F (Author) Other; Goncalves, R (Author) Other; Quiroga, H (Author) Other; Mendes, A (Author) Other; Vaz, AL (Author) Other; Charron, D (Author) Other

Journal

Title: European Journal of Immunogenetics

Vol. 28

Final page: 299

ISSN: 0960-7420

Publisher: Blackwell

Indexing

Scopus - 0 Citations

Other information

Authenticus ID: P-007-G92

Abstract (EN): Introduction: Rheumatoid Arthritis (RA) is a common autoimmune disease with a population prevalence near 1%. Since a long time ago has been associated to HLA-DR antigens, namely DR 01, 04 and 10, but his genetic background remains unexplained. One of the most repeated explanations is that this is a potygenic and a multifactorial disease and genetics seems account for just 1/3 of the responsibility for the development of this disease. After the Shared Epitope (SE) hypothesis, proposing that some HLA-DR alleles sharing a sequence motif predispose to RA, it has been proposed more recently, the RA Protection Model (RAP), which attributes the susceptibility to some DQ alleles, with a protective role for DRB1 alleles containing a DERAA motif in the 3 th hypervariable region. Although the HLA class II association with this disease is undoubtiul, the reported susceptiblility alleles are not always the same in all the populations, justifying national or even regional studies about HLA allele frequencies to characterise the HLA/RA association in each population. Material and Methods: 79 unrelated RA patients and, as a control, 97 unrelated subjects from a random population, were genotyped using PCR-SSP and Reverse hybridization after PCR. It has been performed HLA-A, B, C, DRB and DQB typing. The HLA haplotypes from alt the control subjects were assigned from family study and the same was done to 26 RA patients. Results RA patients: 70 (88 6%) women; family single cases: 68 (86%); average onset age: 43; onset age <36: 45.8%. HLA alleles frequencies on RA comparing with the control population: A*01, *02, C*06,*15 and DRB1*13 were under represented (p<005); DRB1*04 and DQB*0302 were significantly increased (p<0.01 and p<0.05). Stratifying to onset age =or <35, significance to both alleles increased (p=0.002). DRB1*0405-DQB*0302 haplotype represents 50% of the DQB*0302 haplotypes, belonging to patients with onset age<35 in 70% of the cases. There is not an extended haplotype clearly involved on the susceptibility to the RA in this population. Discussion Results confirm that in our RA population some different genetic factors HLA-DQB related seems to be involved in early onset age of the disease and point to different inherited genetic factors in genes from the HLA-class II region or themselves. © 2001 Blackwell Science Ltd.

Language: English

Type (Professor's evaluation): Scientific