Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy
- Hor, H.
- Kutalik, Z.
- Dauvilliers, Y.
- Valsesia, A.
- Lammers, G.J.
- Donjacour, C.E.H.M.
- Iranzo, A.
- Santamaria, J.
- Adrados, R.P.
- Vicario, J.L.
- Overeem, S.
- Arnulf, I.
- Theodorou, I.
- Jennum, P.
- Knudsen, S.
- Bassetti, C.
- Mathis, J.
- Lecendreux, M.
- Mayer, G.
- Geisler, P.
- Beneto, A.
- Petit, B.
- Pfister, C.
- Burki, J.V.
- Didelot, G.
- Billiard, M.
- Ercilla, G.
- Verduijn, W.
- Claas, F.H.J.
- Vollenwider, P.
- Waeber, G.
- Waterworth, D.M.
- Mooser, V.
- Heinzer, R.
- Beckmann, J.S.
- Bergmann, S.
- Tafti, M.
DOIAbstract
Narcolepsy is a rare sleep disorder with the strongest human leukocyte antigen (HLA) association ever reported. Since the associated HLA-DRB1*1501-DQB1*0602 haplotype is common in the general population (15-25%), it has been suggested that it is almost necessary but not sufficient for developing narcolepsy. To further define the genetic basis of narcolepsy risk, we performed a genome-wide association study (GWAS) in 562 European individuals with narcolepsy (cases) and 702 ethnically matched controls, with independent replication in 370 cases and 495 controls, all heterozygous for DRB1*1501-DQB1*0602. We found association with a protective variant near HLA-DQA2 (rs2858884; P < 3 x 10(-8)). Further analysis revealed that rs2858884 is strongly...
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