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

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.

Keywords

genetics HLA multiple sclerosis neuromyelitis optica susceptibility

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