title: MGAT5 alters the severity of multiple sclerosis.
abstract: Multiple Sclerosis (MS) is a genetically complex immune mediated, demyelinating disease of the central nervous system. To date no genetic variants have been unambiguously linked to disease severity. We have conducted a genome wide screen, using Affymetrix Genechip 500K technology, for severity in 1040 MS patients. Two markers within MGAT5, a gene coding for a glycosylation enzyme, were found to be significantly associated with outcome in the screening as well as in an independent population (combined p-values: 2.8 x 10(-6) and 1.5 x 10(-7)).
authors.affiliation: The MS research group, Center for Molecular Medicine CMM L8:00, Department of Clinical Neuroscience, Karolinska Institutet, 171 76 Stockholm, Sweden. boel.brynedal@ki.se
authors.forename: B
authors.initials: B
authors.lastname: Brynedal
authors.forename: J
authors.initials: J
authors.lastname: Wojcik
authors.forename: F
authors.initials: F
authors.lastname: Esposito
authors.forename: V
authors.initials: V
authors.lastname: Debailleul
authors.forename: J
authors.initials: J
authors.lastname: Yaouanq
authors.forename: F
authors.initials: F
authors.lastname: Martinelli-Boneschi
authors.forename: G
authors.initials: G
authors.lastname: Edan
authors.forename: G
authors.initials: G
authors.lastname: Comi
authors.forename: J
authors.initials: J
authors.lastname: Hillert
authors.forename: H
authors.initials: H
authors.lastname: Abderrahim
mesh_terms: D000328:Adult; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004185:Disability Evaluation; D005060:Europe; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D016678:Genome / Q000235:genetics; D055106:Genome-Wide Association Study; D005838:Genotype; D006031:Glycosylation; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D012720:Severity of Illness Index
chemical_list: D005819:Genetic Markers; D009419:Nerve Tissue Proteins; C479741:MGAT5B protein, human; D017351:N-Acetylglucosaminyltransferases