HLA-DQB1*0602

Indication

Suspicion of narcolepsy.

Method

Sequencing using whole EDTA-blood.

Response

The answer is given as positive or negative.

Interpretation

Over 90% of individuals with narcolepsy with cataplexy carry the genetic HLA allele DQB1*0602 Moreover, the DQB1*0602 allele is positive in 35% to 56% of patients with narcolepsy without cataplexy. In the normal population 20% have DQB1*0602 allele, which means the diagnosis cannot be made solely by means of the DQB1*0602 allele. Hypocretin-1 levels are usually significantly reduced in individuals with narcolepsy with cataplexy and are together with HLA-DQB1*0602 a very strong indication of narcolepsy with cataplexy. Antibodies against Tribbles homolog 2 (Trib 2) has been detected in up to 26% of patients with narcolepsy with cataplexy.

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Reference

Parish JM. Genetic and immunologic aspects of sleep and sleep disorders. Chest. 2013 May: 143(5):1489-99. PMID: 23648914

Clinical studies