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HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica

Marcelo Matiello1, Janet Schaefer-Klein, Doralina G Brum

  • 1Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.

Multiple Sclerosis (Houndmills, Basingstoke, England)
|July 2, 2010
PubMed
Abstract

Insights

The HLA-DRB1*1501 allele, linked to multiple sclerosis, shows a negative association with neuromyelitis optica (NMO). This genetic finding differentiates the two neurological diseases.

Area of Science:

  • Neuroimmunology
  • Human Genetics
  • Disease Association Studies

Background:

  • The HLA-DRB1*1501 allele is a known risk factor for multiple sclerosis (MS).
  • Previous studies on the association between HLA-DRB1*1501 and neuromyelitis optica (NMO) were limited by small sample sizes.

Purpose of the Study:

  • To investigate the association between the HLA-DRB1*1501 allele and neuromyelitis optica (NMO).
  • To compare the genetic associations of HLA-DRB1*1501 in NMO and multiple sclerosis (MS).

Main Methods:

  • A case-control genetic association study was conducted.
  • The single nucleotide polymorphism (SNP) rs3135388, a tag for HLA-DRB1*1501, was genotyped in 164 NMO patients, 220 MS patients, and 959 controls.
  • Taqman-based 5' nuclease assay was used for genotyping rs3135388.

Main Results:

  • The rs3135388*A allele showed a significant positive association with multiple sclerosis (OR = 3.93, p = 1.18 x 10(-09)).
  • Conversely, rs3135388*A demonstrated a significant negative association with neuromyelitis optica (OR = 0.57, p = 0.01).

Conclusions:

  • Multiple sclerosis and neuromyelitis optica exhibit distinct genetic associations with the HLA-DRB1*1501 allele.
  • These findings highlight genetic differences between MS and NMO.

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