Table 4.
Summary of HLA genotype-clinical phenotype correlations in MS.
| HLA allele | Confer susceptibility or resistance | Clinical and laboratory findings | Effects on clinical phenotype |
|---|---|---|---|
| DRB1*04:05 | Susceptibility | Age at onset | Younger |
| Optic nerve involvement (optic neuritis) | Increased | ||
| Visual FS | Increased | ||
| CSF IgG abnormalities | Decreased | ||
| MSSS (excluding PPMS in southern Japan) | Decreased | ||
| DRB1*15:01 | Susceptibility | Optic nerve involvement (optic neuritis) | Increased |
| Cerebellum involvement | Increased | ||
| Visual FS | Increased | ||
| Pyramidal FS | Increased | ||
| PI | Increased | ||
| CSF IgG abnormalities | Increased | ||
| Anti-SS-A/SS-B Ab | Increased | ||
| DPB1*03:01 | Susceptibility | Brainstem FS | Increased |
| Cerebellar FS | Increased | ||
| DRB1*01:01 | Resistance | Spinal cord involvement | Decreased |
| Sensory FS | Decreased | ||
| DRB1*09:01 | Resistance | ARR | Decreased |
| Brainstem involvement | Decreased | ||
| Bowel and bladder FS | Decreased | ||
| DRB1*13:02 | Resistance | Spinal cord involvement | Decreased |
| Brainstem involvement | Decreased | ||
| OCBs | Decreased | ||
| DPB1*04:01 | Resistance | OCBs | Decreased |
If the effects were derived from only 5 or less than 5 positive cases, such findings were regarded as too preliminary, and therefore they are not described in the table.
Ab antibody, CSF cerebrospinal fluid, FS functional system, LESCL longitudinally extensive spinal cord lesion, MS multiple sclerosis, OCBs oligoclonal IgG bands, PI Progression Index.