DQB1*0602 allele shows a strong association with multiple sclerosis in patients in Malaga, Spain

Abstract

Background: The human leukocyte antigen (HLA) class II DR2 haplotype (DRB1Black star1501, DQA1Black star0102, DQB1Black star0602) has been associated with multiple sclerosis (MS) in all ethnic groups and very strongly in Caucasians. Aim: To investigate the possible HLA class II (DRB1, DQA1 and DQB1) associations with MS in Malaga, southern Spain. Methods: We analysed the HLA class II sub-regions DRB1, DQA1 and DQB1 by polymerase chain reaction (PCR) and sequence-specific oligonucleotide probe hybridization (PCR/SSO) for DRB1 and DQB1 and with sequence-specific primers (PCR/SSP) for DRB1 subtypes and DQA1. Possible HLA class II associations with clinical MS characteristics were investigated in 149 subjects with and 160 without MS. Results: Associations were detected between MS and the HLA class II alleles DRB1Black star1501 (45.6% vs. 21.3%, p = 0.001), DQA1Black star0102 (44% vs. 29.4%, p = 0.001) and DQB1Black star0602 (45% vs.20.6%, p = 0.001). The DR2 haplotype (DRB1Black star1501, DQA1Black star0102, DQB1*0602) was associated with MS (43.6% vs. 20%, p = 0.002). DQB1Black star0602 was the only allele that maintained an association with MS in a logistic regression model. No HLA class II alleles or genotypes were significantly associated with any clinical characteristics of MS. Conclusions: Our results confirm the positive association of the DR2 haplotype with MS, particularly the allele DQB1Black star0602, in the population studied. DR4 was not associated with the disease in Malaga. HLA class II alleles or haplotypes were not associated with clinical or demographic characteristics, or clinical form or severity of MS.