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 journalArticle

16 Citations (Scopus)

Abstract

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
Volume16
Issue number8
DOIs
StatePublished - Aug 2010

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Neuromyelitis Optica
HLA-DRB1 Chains
Multiple Sclerosis
Genetic Association Studies
Single Nucleotide Polymorphism
Alleles
Population

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica. / Matiello, Marcelo; Schaefer-Klein, Janet; Brum, Doralina G.; Atkinson, Elizabeth J.; Kantarci, Orhun H; Weinshenker, Brian G.

In: Multiple Sclerosis, Vol. 16, No. 8, 08.2010, p. 981-984.

Research output: Contribution to journalArticle

Matiello, Marcelo ; Schaefer-Klein, Janet ; Brum, Doralina G. ; Atkinson, Elizabeth J. ; Kantarci, Orhun H ; Weinshenker, Brian G. / HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica. In: Multiple Sclerosis. 2010 ; Vol. 16, No. 8. pp. 981-984.
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abstract = "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.",
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