RT Journal Article
SR Electronic
T1 Association of HLA Class II Genes with Systemic Sclerosis in Spanish Patients
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP jrheum.090377
DO 10.3899/jrheum.090377
A1 Carmen P. Simeón
A1 Vicent Fonollosa
A1 Carles Tolosa
A1 Eduard Palou
A1 Albert Selva
A1 Roser Solans
A1 Lluis Armadans
A1 Estefania Moreno
A1 Sara Marsal
A1 Miquel Vilardell
YR 2009
UL http://www.jrheum.org/content/early/2009/10/29/jrheum.090377.abstract
AB Objective 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. Methods 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. Results 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 anticentromere 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. Conclusion 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).