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:

S Sanna, M Pitzalis, M Zoledziewska, I Zara, C Sidore, R Murru, MB Whalen, F Busonero, A Maschio, G Costa, MC Melis, F Deidda, F Poddie, L Morelli, G Farina, Y Li, M Dei, S Lai, A Mulas, G Cuccuru, E Porcu, L Liang, P Zavattari, L Moi, E Deriu, MF Urru, M Bajorek, MA Satta, E Cocco, P Ferrigno, S Sotgiu, M Pugliatti, S Traccis, A Angius, M Melis, G Rosati, GR Abecasis, M Uda, MG Marrosu, D Schlessinger, F Cucca

TITLE:

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

JOURNAL:

Nature genetics Jun 2010, Vol 42, pp. 495-7

ABSTRACT:

A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10), OR = 1.40). CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis. PUBMED: 20453840
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