HLA‐DQB1*0602 homozygosity increases relative risk for narcolepsy but not disease severity in two ethnic groups

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Abstract
Narcolepsy is a neurological disorder known to be tightly associated with HLA‐DQA1*0102 and DQB1*0602. In this study, we have examined if homozygosity for DQB1*0602 increases disease susceptibility and/ or severity. Patients diagnosed at Stanford University (n=160) or enrolled in a multicenter clinical trial (n=509) were included in this analysis. In both African‐Americans and Caucasian‐Americans with or without cataplexy, a significantly higher than expected number of subjects were DQB1*0602 homozygotes. Relative risks were 2–4 times higher in DQB1*0602 homozy‐gotes vs heterozygotes across all patient groups. In contrast, symptom severity did not differ between DQB1*0602 homozygous and heterozygous subjects. These results indicate that HLA‐DQB1*0602 homozygosity increases susceptibility to narcolepsy but does not appear to influence disease severity.