Presence of CSF oligoclonal bands (OCB) is associated with the HLA-DRB1 genotype in a West Australian multiple sclerosis cohort
Received 27 July 2009; received in revised form 5 October 2009; accepted 7 October 2009. published online 02 November 2009.
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.
aAustralian 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
bDepartment of Clinical Immunology and Immunogenetics, PathWest Royal Perth Hospital, Perth, Western Australia, Australia
cCentre for Clinical Immunology & Biomedical Statistics, Murdoch University & Royal Perth Hospital, Perth, Western Australia, Australia
dSchool of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia
eDepartment of Neurology, the Third Affiliated Hospital of Sun Yet-sen University, Guangzhou, China