HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica.
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 x 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.
Matiello
Marcelo
M
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Schaefer-Klein
Janet
J
Brum
Doralina G
DG
Atkinson
Elizabeth J
EJ
Kantarci
Orhun H
OH
Weinshenker
Brian G
BG
D000483:Alleles; D016022:Case-Control Studies; D004198:Disease Susceptibility; D005838:Genotype; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D016015:Logistic Models; D009103:Multiple Sclerosis / Q000235:genetics*; D009471:Neuromyelitis Optica / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; C489631:HLA-DRB1*15:01 antigen