Narcolepsy

We are involved in a Genome-wide Association Study on narcolepsy conducted by Mehdi Tafti's Group at the University of Lausanne. In brief, we identified a haplotype in the HLA-region that is strongly protective against narcolepsy. More than 10% of HLA-positive controls carry this DRB1*1301-DQB1*0603 haplotype, which was found in virtually no narcoleptic cases. The research findings were published in Nature Genetics.

Kapur K, Johnson T, Beckmann ND, Sehmi J, Tanaka T, Kutalik Z, Styrkarsdottir U, Zhang W, Marek D, Gudbjartsson DF, Milaneschi Y, Holm H, Diiorio A, Waterworth D, Li Y, Singleton AB, Bjornsdottir US, Sigurdsson G, Hernandez DG, Desilva R, Elliott P, Eyjolfsson GI, Guralnik JM, Scott J, Thorsteinsdottir U, Bandinelli S, Chambers J, Stefansson K, Waeber G, Ferrucci L, Kooner JS, Mooser V, Vollenweider P, Beckmann JS, Bochud M, Bergmann S
Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.
PLoS Genet: 2010 Jul 22, 6(7);e1001035
[PubMed:20661308] [WorldCat.org: ISSN ESSN ] [DOI] ( e)