Abstract
Objective: To determine whether HLA-DRB1 alleles influence spinal cord pathology in MS.
Methods: Two hundred and fifty-two consecutive MS patients from the Perth Demyelinating Disease Database had MRI scans of the spinal cord and brain and high-resolution HLA-DRB1 genotyping. The numbers, locations, shape and segmental extent of cord lesions were analysed and correlated with HLA-DRB1 alleles.
Results: The frequency of diffuse cord lesions was higher in HLA-DRB1*1501 carriers than non-carriers (14.0 vs 5.3%, p = 0.036, uncorrected) and in HLA-DRB1*1501 homozygotes than heterozygotes (28.6 vs 7.9%, p = 0.01, uncorrected) with a strong dose effect. Carriers of HLA-DRB1*0701 had significantly more wedge-shaped lesions than non-carriers (71.4 vs 28.1/%, p = 0.0002, corrected) whereas HLA-DRB1*0301 carriers had fewer wedge-shaped lesions than non-carriers (14.9 vs 41.1%, p = 0.001, uncorrected). HLA-DRB1*1104 carriers had significantly more focal lesions than non-carriers (median 7.1 vs 4.1, p = 0.002). The HLA-DRB1*0701 allele was positively correlated with cervical lesion location while the DRB1*0401 allele was correlated with thoracic lesion location (p < 0.05).
Conclusions: Our study provides evidence that HLA-DRB1 alleles may have a role in the development of spinal cord lesions in MS.