Analysis of HLA DR2&DQ6 (DRB1*1501, DQA1*0102, DQB1*0602) haplotypes in Iranian patients with multiple sclerosis

Mojdeh Ghabaee1, Asghar Bayati, Shahla Amri Saroukolaei

  • 1Department of Neurology, Iranian Center of Neurological Research, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran. ghabaeem@tums.ac.ir

Insights

Human leukocyte antigen (HLA) DRB1*1501 is more frequent in Iranian multiple sclerosis (MS) patients, while DQA1*0102 is negatively associated. These HLA alleles do not correlate with MS clinical presentation or disease severity.

Area of Science:

  • Immunogenetics
  • Neurology
  • Human Genetics

Background:

  • Multiple sclerosis (MS) is a central nervous system inflammatory demyelinating disease with unclear etiology.
  • Genetic susceptibility, particularly involving human leukocyte antigen (HLA) class II alleles, is implicated in MS development.
  • Specific HLA alleles like DRB1*1501, DQA1*0102, and DQB1*0602 are hypothesized to play a significant role.

Purpose of the Study:

  • To investigate the association of HLA class II alleles (DRB1*1501, DQA1*0102, DQB1*0602) with multiple sclerosis in an Iranian population.
  • To compare the frequency of these HLA alleles in Iranian MS patients versus healthy controls.
  • To explore potential correlations between these HLA alleles and clinical parameters of MS.

Main Methods:

  • Case-control study involving 183 Iranian patients with multiple sclerosis and 100 healthy controls.
  • Human leukocyte antigen (HLA) typing performed using polymerase chain reaction (PCR) amplification with sequence-specific primers (PCR-SSP) for DRB1*1501, DQA1*0102, and DQB1*0602 alleles.
  • Statistical analysis to determine allele frequencies and associations with MS and clinical characteristics.

Main Results:

  • HLA DRB1*1501 was significantly more frequent in MS patients (46%) compared to controls (20%) (PV = 0.0006).
  • The DQA1*0102 haplotype showed a negative association with MS (30% in patients vs. 50% in controls) (PV = 0.0049).
  • No significant association was found for DQB1*0602 with MS (24% vs. 30%, PV = 0.43), nor were significant correlations observed between these HLA alleles and sex, disease type, initial symptoms, EDSS, age at onset, or familial MS.

Conclusions:

  • The HLA DRB1*1501 allele is associated with an increased risk of multiple sclerosis in the Iranian population.
  • The HLA DQA1*0102 haplotype appears to have a protective effect against multiple sclerosis in this cohort.
  • The investigated HLA haplotypes (DRB1*1501, DQA1*0102, DQB1*0602) are not associated with the clinical presentation, disease duration, or disability levels in Iranian patients with MS.