Abstract
Background: In Iranian patients with opticospinal multiple sclerosis (OSMS), a paucity of brain lesions and short spinal cord lesions extending less than three spinal segments are characteristic findings on magnetic resonance imaging (MRI). It also shows a relatively benign course with negative CSF oligo-coonal bands. Objective: We aimed to clarify the possible relationship between clinical phenotype and MRI features of OSMS and human leucocyte antigen (HLA) system in Iran. Methods: Genotyping of HLA class II allele frequencies in 20 patients with OSMS were done, using polymerase chain reaction sequence-specific primer amplification method. Blood samples were extracted and typed for HLA-DRB, DQA, and DQB loci and compared with 100 controls. Results: Significant positive association was observed in DRB1*03, DQA1*0201, DQA1*03, DQB1*0201, and DQB1*0611, while DQB1*0602 was absent in our patients. Conclusion: These finding suggest that HLA-DRB association pattern in OSMS is different from conventional MS in Iran which is mostly associated with DRB1*1501 and from similar Japanese OSMS who are negative for brain lesions fulfilling the Barkhof criteria and negative for the presence of longitudinally extensive spinal cord lesions who carries the DRB*0405 allele. OSMS is immunogenetically heterogeneous. Also absence of DQB1*0602 allele may negatively be associated with the absence of Barkhof brain lesion.
Highlights
The etiology of multiple sclerosis (MS) is unknown, and pathogenesis of the disease encompasses multiple inflammatory as well as apoptotic process in the central nervous system [1,2,3]
These finding suggest that human leucocyte antigen (HLA)-DRB association pattern in opticospinal multiple sclerosis (OSMS) is different from conventional MS in Iran which is mostly associated with DRB1*1501 and from similar Japanese OSMS who are negative for brain lesions fulfilling the Barkhof criteria and negative for the presence of longitudinally extensive spinal cord lesions who carries the DRB*0405 allele
The HLA class II allele frequencies for DRB, DQA and DQB in 20 OSMS patients comparing to 100 healthy subjects are shown in Table 1, 2 and 3, respectively
Summary
The etiology of multiple sclerosis (MS) is unknown, and pathogenesis of the disease encompasses multiple inflammatory as well as apoptotic process in the central nervous system [1,2,3]. The human leucocyte antigen (HLA) system provides a set of genetic loci which lend themselves to systematic study Both linkage and whole genome association screens revealed a prominent role for alleles of the major histocompatibility complex class II gene HLA-DRB1 [5]. In Iranian patients with opticospinal multiple sclerosis (OSMS), a paucity of brain lesions and short spinal cord lesions extending less than three spinal segments are characteristic findings on magnetic resonance imaging (MRI). It shows a relatively benign course with negative CSF oligocoonal bands. Absence of DQB1*0602 allele may negatively be associated with the absence of Barkhof brain lesion
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