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Strong association of MuSK antibody–positive myasthenia gravis and HLA-DR14-DQ5

From the Departments of Neurology (E.H.N., J.J.G.M.V.), Immunohaematology and Blood Transfusion (B.O.R., G.W.H., W.V.), and Clinical Chemistry (B.E.P.B.B.), Leiden University Medical Center, Leiden, The Netherlands; Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands (J.B.M.K.); Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands (M.H.D.B.); and Neurosciences Group, Department of Clinical Neurology, University of Oxford, Oxford, UK (A.V.).

Address correspondence and reprint requests to Dr. Erik H. Niks, Department of Neurology, J3-R 166, Leiden University Medical Center, P.O. Box 9600, 2300 RC, Leiden, The Netherlands; e-mail: ehniks{at}lumc.nl

The authors studied the HLA profile of 23 white Dutch patients with muscle-specific kinase antibody–positive myasthenia gravis (MuSK Ab+ MG) and found an association with HLA-DR14-DQ5 (odds ratio 8.5; 95% CI 3.9 to 18.7; p = 4.9 x 10^–5). Fifty-two percent of the patients carried the DR14 allele compared with 5% of the controls (p = 1.0 x 10^–8). This association between MuSK Ab+ MG and a relatively rare HLA haplotype differs from the previously described association of early-onset acetylcholine receptor Ab+ MG with HLA-B8-DR3.

This study was supported by the Prinses Beatrix Fonds.

Disclosure: Dr. Angela Vincent and her department have received royalties (in excess of $10,000) for MuSK antibody assays from Athena Diagnostics and RSR Ltd. (Cardiff, UK). The remaining authors report no conflicts of interest.

Received August 15, 2005. Accepted in final form February 22, 2006.

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