DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Multiple sclerosis. The EFO term multiple sclerosis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: multiple sclerosis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

SE Baranzini, J Wang, RA Gibson, N Galwey, Y Naegelin, F Barkhof, EW Radue, RL Lindberg, BM Uitdehaag, MR Johnson, A Angelakopoulou, L Hall, JC Richardson, RK Prinjha, A Gass, JJ Geurts, J Kragt, M Sombekke, H Vrenken, P Qualley, RR Lincoln, R Gomez, SJ Caillier, MF George, H Mousavi, R Guerrero, DT Okuda, BA Cree, AJ Green, E Waubant, DS Goodin, D Pelletier, PM Matthews, SL Hauser, L Kappos, CH Polman, JR Oksenberg

TITLE:

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

JOURNAL:

Human molecular genetics Feb 2009, Vol 18, pp. 767-78

ABSTRACT:

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. PUBMED: 19010793
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