Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis

Baranzini, S. E. and Wang, J. and Gibson, R. A. and Galwey, N. and Naegelin, Y. and Barkhof, F. and Radue, E. W. and Lindberg, R. L. and Uitdehaag, B. M. and Johnson, M. R. and Angelakopoulou, A. and Hall, L. and Richardson, J. C. and Prinjha, R. K. and Gass, A. and Geurts, J. J. and Kragt, J. and Sombekke, M. and Vrenken, H. and Qualley, P. and Lincoln, R. R. and Gomez, R. and Caillier, S. J. and George, M. F. and Mousavi, H. and Guerrero, R. and Okuda, D. T. and Cree, B. A. and Green, A. J. and Waubant, E. and Goodin, D. S. and Pelletier, D. and Matthews, P. M. and Hauser, S. L. and Kappos, L. and Polman, C. H. and Oksenberg, J. R.. (2009) Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Human molecular genetics, Vol. 18. pp. 767-778.

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Official URL: http://edoc.unibas.ch/dok/A6005618

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Multiple sclerosis (MS), a chronic disorder of the central nervous system and common cause of neurological disability in young adults, is characterized by moderate but complex risk heritability. Here we report the results of a genome-wide association study performed in a 1000 prospective case series of well-characterized individuals with MS and group-matched controls using the Sentrix HumanHap550 BeadChip platform from Illumina. After stringent quality control data filtering, we compared allele frequencies for 551 642 SNPs in 978 cases and 883 controls and assessed genotypic influences on susceptibility, age of onset, disease severity, as well as brain lesion load and normalized brain volume from magnetic resonance imaging exams. A multi-analytical strategy identified 242 susceptibility SNPs exceeding established thresholds of significance, including 65 within the MHC locus in chromosome 6p21.3. Independent replication confirms a role for GPC5, a heparan sulfate proteoglycan, in disease risk. Gene ontology-based analysis shows a functional dichotomy between genes involved in the susceptibility pathway and those affecting the clinical phenotype.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Clinical Neuroimmunology (Derfuss/Lindberg)
03 Faculty of Medicine > Bereich Medizinische Fächer (Klinik) > Neurologie > Neuroimmunologie (Kappos)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Medizinische Fächer (Klinik) > Neurologie > Neuroimmunologie (Kappos)
UniBasel Contributors:Kappos, Ludwig and Lindberg Gasser, Raija L.P.
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Oxford Univ. Press
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:01 Mar 2013 11:14
Deposited On:01 Mar 2013 11:11

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