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)).
Copyright 2010 Elsevier B.V. All rights reserved.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Cohort Studies
-
DNA Mutational Analysis
-
Disability Evaluation
-
Europe
-
Female
-
Genetic Markers / genetics
-
Genetic Predisposition to Disease / genetics*
-
Genetic Testing
-
Genetic Variation / genetics
-
Genome / genetics
-
Genome-Wide Association Study*
-
Genotype
-
Glycosylation
-
Humans
-
Male
-
Multiple Sclerosis / genetics*
-
Multiple Sclerosis / metabolism
-
Multiple Sclerosis / physiopathology
-
N-Acetylglucosaminyltransferases / genetics*
-
Nerve Tissue Proteins / genetics*
-
Oligonucleotide Array Sequence Analysis
-
Severity of Illness Index
Substances
-
Genetic Markers
-
Nerve Tissue Proteins
-
MGAT5B protein, human
-
N-Acetylglucosaminyltransferases