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Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

De Jager, Philip L. and Jia, Xiaoming and Wang, Joanne and de Bakker, Paul I. W. and Ottoboni, Linda and Aggarwal, Neelum T. and Piccio, Laura and Raychaudhuri, Soumya and Tran, Dong and Aubin, Cristin and Briskin, Rebeccah and Romano, Susan and Baranzini, Sergio E. and McCauley, Jacob L. and Pericak-Vance, Margaret A. and Haines, Jonathan L. and Gibson, Rachel A. and Naeglin, Yvonne and Uitdehaag, Bernard and Matthews, Paul M. and Kappos, Ludwig and Polman, Chris and McArdle, Wendy L. and Strachan, David P. and Evans, Denis and Cross, Anne H. and Daly, Mark J. and Compston, Alastair and Sawcer, Stephen J. and Weiner, Howard L. and Hauser, Stephen L. and Hafler, David A. and Oksenberg, Jorge R.. (2009) Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nature genetics, Vol. 41. pp. 776-782.

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Official URL: http://edoc.unibas.ch/dok/A6004540

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Abstract

We report the results of a meta-analysis of genome-wide association scans for multiple sclerosis (MS) susceptibility that includes 2,624 subjects with MS and 7,220 control subjects. Replication in an independent set of 2,215 subjects with MS and 2,116 control subjects validates new MS susceptibility loci at TNFRSF1A (combined P = 1.59 x 10(-11)), IRF8 (P = 3.73 x 10(-9)) and CD6 (P = 3.79 x 10(-9)). TNFRSF1A harbors two independent susceptibility alleles: rs1800693 is a common variant with modest effect (odds ratio = 1.2), whereas rs4149584 is a nonsynonymous coding polymorphism of low frequency but with stronger effect (allele frequency = 0.02; odds ratio = 1.6). We also report that the susceptibility allele near IRF8, which encodes a transcription factor known to function in type I interferon signaling, is associated with higher mRNA expression of interferon-response pathway genes in subjects with MS.
Faculties and Departments: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
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Nature Publ
ISSN:1061-4036
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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