Association of HLA class II genes with systemic sclerosis in Spanish patients

• Published in: Journal of rheumatology Vol. 36; no. 12; p. 2733
• Main Authors: Simeón, Carmen P, Fonollosa, Vicent, Tolosa, Carles, Palou, Eduard, Selva, Albert, Solans, Roser, Armadans, Lluis, Moreno, Estefania, Marsal, Sara, Vilardell, Miquel
• Format: Journal Article
• Language: English
• Published: Canada 01.12.2009
• Subjects: Adolescent; Adult; Aged; Alleles; Autoantibodies - genetics; Autoantibodies - immunology; European Continental Ancestry Group - genetics; Female; Genes, MHC Class II; Genetic Predisposition to Disease; HLA-DQ Antigens - genetics; HLA-DQ Antigens - immunology; HLA-DQ beta-Chains; HLA-DR Antigens - genetics; HLA-DR Antigens - immunology; HLA-DRB1 Chains; Humans; Male; Middle Aged; Phenotype; Scleroderma, Systemic - genetics; Scleroderma, Systemic - immunology; Young Adult
• ISSN: 0315-162X
• DOI: 10.3899/jrheum.090377

To examine the role of HLA-DRB1 and HLA-DQB1 alleles in the susceptibility to systemic sclerosis (SSc) and its clinical expression in a Spanish population. One hundred Spanish Caucasian patients with SSc and 130 controls were studied. Molecular HLA-DRB1 and HLA-DQB1 typing was performed by polymerase chain reaction (PCR) sequence-based typing and PCR sequence-specific oligonucleotide. HLA-DRB1*11 was associated with genetic susceptibility to SSc, whereas HLA-DRB1*07 (HLA-DRB1*0701) showed a protective effect. A significant increase in the frequency of the DRB1*1104 allele was observed in patients with anti-topoisomerase I autoantibodies (anti-Topo I) while HLA-DRB1*01 and HLA-DQB1*05 alleles were significantly increased in patients with anti-centromere antibodies (ACA). The HLA-DRB1*11 allele was more frequent in patients with pulmonary fibrosis; however, no significant association with any HLA-DRB1 or DQB1 alleles was identified in patients with pulmonary arterial hypertension. HLA alleles play a role in genetic susceptibility to SSc in Spanish patients. Some alleles are more prevalent in patients with pulmonary fibrosis and in patients with certain SSc-specific autoantibodies (anti-Topo I and ACA).