RGD Reference Report - The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis. - Rat Genome Database

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The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.

Authors: Alcina, A  Vandenbroeck, K  Otaegui, D  Saiz, A  Gonzalez, J R  Fernandez, O  Cavanillas, M L  Cénit, M C  Arroyo, R  Alloza, I  García-Barcina, M  Antigüedad, A  Leyva, L  Izquierdo, G  Lucas, M  Fedetz, M  Pinto-Medel, M J  Olascoaga, J  Blanco, Y  Comabella, M  Montalban, X  Urcelay, E  Matesanz, F 
Citation: Alcina A, etal., Genes Immun. 2010 Jul;11(5):439-45. doi: 10.1038/gene.2010.30. Epub 2010 May 27.
RGD ID: 12793067
Pubmed: PMID:20508602   (View Abstract at PubMed)
DOI: DOI:10.1038/gene.2010.30   (Journal Full-text)

Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single-nucleotide polymorphisms (SNPs) previously associated with different immune-mediated diseases in GWAS were genotyped in a Caucasian Spanish population of 2864 multiple sclerosis (MS) patients and 2930 controls. Three SNPs were found to be associated with MS: rs1678542 in KIF5A (P=0.001, odds ratio (OR)=1.13, 95% confidence interval (CI)=1.05-1.23); rs3184504 in SH2B3 (P=0.00001, OR=1.19, 95% CI=1.10-1.27) and rs763361 in CD226 (P=0.00007, OR=1.16, 95%CI=1.08-1.25). These variants have previously been associated with rheumatoid arthritis and type 1 diabetes. The SH2B3 polymorphism has additionally been associated with systemic lupus erythematosus. Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. These data may help to shape the contribution of each pathway to different disorders.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
multiple sclerosis susceptibilityIAGP 12793067DNA:snp:intron:c.1717-152C>G (rs1678542) (human)RGD 
multiple sclerosis susceptibilityISOKIF5A (Homo sapiens)12793067; 12793067DNA:snp:intron:c.1717-152C>G (rs1678542) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Kif5a  (kinesin family member 5A)

Genes (Mus musculus)
Kif5a  (kinesin family member 5A)

Genes (Homo sapiens)
KIF5A  (kinesin family member 5A)


Additional Information