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The HLA locus and multiple sclerosis in Sicily

From the Department of Neurology (Drs. Brassat, Hauser, and Oksenberg), School of Medicine, University of California at San Francisco; Department of Neurology, Ophthalmology, Otolaryngology and Psychiatry (Dr. Salemi and Savettieri), Department of Cellular and Developmental Biology (Dr. Proia), University of Palermo, Italy; and Division of Epidemiology (Dr. Barcellos and G. McNeill), School of Public Health, University of California at Berkeley. Dr. Brassat is currently affiliated with INSERM U563, Centre de Physiopathologie de Toulouse, Hopital Purpan, Toulouse, France.

Address correspondence and reprint requests to Dr. Jorge R. Oksenberg, Department of Neurology, University of California, San Francisco, 513 Parnassus Avenue, S-256, San Francisco, CA 94143-0435; e-mail: oksen{at}itsa.ucsf.edu

The authors report the analysis of HLA-class II allelic heterogeneity in a well characterized multiple sclerosis (MS) Sicilian dataset. Family-based association analysis revealed evidence for excess transmission to affected individuals for alleles HLA-DRB1*1501, DRB1*04, and DQB1*0302. When analyzed as haplotypes, the authors observed excess transmission for the DRB1*0400-DQB1*0302 haplotype. Sicilian patients share the HLA-DRB1*1501 susceptibility allele with affecteds living in continental Italy, but also display the allelic heterogeneity that characterizes Mediterranean populations.

Supported by grants from US NMSS RG 2901 and National Institute of Neurologic Disorders and Stroke RO1 NS046297.

Received June 23, 2004. Accepted in final form August 30, 2004.

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