title: Presence of CSF oligoclonal bands (OCB) is associated with the HLA-DRB1 genotype in a West Australian multiple sclerosis cohort.
abstract: High-resolution HLA-DRB1 genotyping was performed in 97 OCB-positive and 68 OCB-negative cases with demyelinating disease to determine the influence of HLA-DRB1 alleles on the presence of OCB in a West Australian multiple sclerosis (MS) cohort. Carriage of the HLA-DRB1*1501 allele was associated with both OCB-positive and OCB-negative MS compared with controls, but more strongly with the OCB-positive group, and increased the likelihood of having OCB 2.1-fold with evidence of a dominant dose-effect. The HLA-DRB1*0301 allele was negatively correlated with OCB, with all homozygotes OCB-negative, suggesting a possible recessive protective effect of HLA-DRB1*0301. There was no significant correlation between OCB and the DRB1*04 alleles which have been associated with OCB-negative MS in previous Swedish and Japanese studies. Evidence of allelic interactions was found with HLA-DRB1*1501/*1301 heterozygotes having a reduced frequency of OCB and HLA-DRB1*0301/*0401 heterozygotes all being OCB-negative. These findings confirm the strong association between HLA-DRB1*1501 and OCB which has been found in other populations but indicate that the influence of other HLA-DRB1 alleles varies in different populations. Our study is the first to show that HLA-DRB1 allele interactions and dose-effects influence the frequency of OCB.
authors.affiliation: Australian Neuromuscular Research Institute, Sir Charles Gairdner Hospital, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Queen Elizabeth II Medical Centre, 6009, Perth, WA, Australia.
authors.forename: Jing-Shan
authors.initials: JS
authors.lastname: Wu
authors.forename: Wei
authors.initials: W
authors.lastname: Qiu
authors.forename: Alison
authors.initials: A
authors.lastname: Castley
authors.forename: Ian
authors.initials: I
authors.lastname: James
authors.forename: Joyce
authors.initials: J
authors.lastname: Joseph
authors.forename: Frank T
authors.initials: FT
authors.lastname: Christiansen
authors.forename: William M
authors.initials: WM
authors.lastname: Carroll
authors.forename: Frank L
authors.initials: FL
authors.lastname: Mastaglia
authors.forename: Allan G
authors.initials: AG
authors.lastname: Kermode
mesh_terms: D000328:Adult; D000483:Alleles; D001315:Australia / Q000453:epidemiology; D015331:Cohort Studies; D005260:Female; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009103:Multiple Sclerosis / Q000134:cerebrospinal fluid* / Q000453:epidemiology / Q000235:genetics*; D043025:Oligoclonal Bands / Q000134:cerebrospinal fluid*; D018570:Risk Assessment
chemical_list: D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; C553502:HLA-DRB1*03:01 antigen; D043025:Oligoclonal Bands