title: Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
abstract: We performed a replication study in 883 Austrian multiple sclerosis (MS) patients and 972 control individuals for 25 previously risk-associated loci (39 SNPs). Two loci, rs1109670 (DDEF2/MBOAT2, p < 0.02) and rs16914086 (TBC1D2, p < 0.05), are replicated here for the first time. Furthermore, we tested all 39 SNPs for association with age at disease onset and measures of disease severity. We observed a trend for association of rs3135388 (HLA-DRB1*1501, p < 0.01), rs7090530 (IL2RA, p < 0.026) and rs1841770 (ZIC1, p < 0.017) with a younger age at MS onset and of rs12044852 (CD58, p < 0.035) with shorter time to reach EDSS6.
authors.affiliation: Department of Neurology, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria. christiane.schmied@meduniwien.ac.at
authors.forename: Mascha C
authors.initials: MC
authors.lastname: Schmied
authors.forename: Sonja
authors.initials: S
authors.lastname: Zehetmayer
authors.forename: Markus
authors.initials: M
authors.lastname: Reindl
authors.forename: Rainer
authors.initials: R
authors.lastname: Ehling
authors.forename: Barbara
authors.initials: B
authors.lastname: Bajer-Kornek
authors.forename: Fritz
authors.initials: F
authors.lastname: Leutmezer
authors.forename: Karin
authors.initials: K
authors.lastname: Zebenholzer
authors.forename: Christoph
authors.initials: C
authors.lastname: Hotzy
authors.forename: Peter
authors.initials: P
authors.lastname: Lichtner
authors.forename: Thomas
authors.initials: T
authors.lastname: Meitinger
authors.forename: H-Erich
authors.initials: HE
authors.lastname: Wichmann
authors.forename: Thomas
authors.initials: T
authors.lastname: Illig
authors.forename: Christian
authors.initials: C
authors.lastname: Gieger
authors.forename: Klaus
authors.initials: K
authors.lastname: Huber
authors.forename: Michael
authors.initials: M
authors.lastname: Khalil
authors.forename: Sigrid
authors.initials: S
authors.lastname: Fuchs
authors.forename: Helena
authors.initials: H
authors.lastname: Schmidt
authors.forename: Eduard
authors.initials: E
authors.lastname: Auff
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kristoferitsch
authors.forename: Franz
authors.initials: F
authors.lastname: Fazekas
authors.forename: Thomas
authors.initials: T
authors.lastname: Berger
authors.forename: Karl
authors.initials: K
authors.lastname: Vass
authors.forename: Alexander
authors.initials: A
authors.lastname: Zimprich
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D001317:Austria; D015331:Cohort Studies; D004247:DNA / Q000235:genetics* / Q000378:metabolism; D004261:DNA Replication; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index
chemical_list: D004247:DNA