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

Marcelo Matiello, Janet Schaefer-Klein, Doralina G. Brum, Elizabeth J. Atkinson, Orhun H. Kantarci, Brian G. Weinshenker

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5' nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58-5.97, p = 1.18 × 10 -09) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36-0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.

Original languageEnglish (US)
Pages (from-to)981-984
Number of pages4
JournalMultiple Sclerosis
Issue number8
StatePublished - Aug 2010


  • HLA
  • genetics
  • multiple sclerosis
  • neuromyelitis optica
  • susceptibility

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


Dive into the research topics of 'HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica'. Together they form a unique fingerprint.

Cite this