title: Polymorphic locus rs10492972 of the KIF1B gene association with multiple sclerosis in Russia: case control study.
abstract: Axonal degeneration is responsible for the progression of the irreversible destruction caused by multiple sclerosis (MS) resulting ultimately in permanent disability. The KIF1B protein, a member of the kinesin family, is necessary for axon growth and myelination in vertebrates. In the recent paper, Aulchenko et al. suggested that the rs10492972[C] variant of KIF1B increases susceptibility to MS, but three following replication study didn't confirm this association. We studied the association of the polymorphic locus rs10492972 present in the KIF1B gene with genetic predisposition and its occurrence in clinical presentations of MS patients resident in western Siberia and the Sakha Republic (Yakutia), Russia. rs10492972 has been genotype in 833 samples of MS patient and 689 healthy controls. Distribution of rs10492972 genotypes corresponded with a Hardy-Weinberg distribution in both the MS patient and control groups, with the frequency of the C allele being the same in both groups (33%). Frequencies of occurrence of the genotypes were not shown to be associated with different disease courses or other characteristics of the disease, such as age at onset or duration. A complete meta-analysis of all analogous studies published to date showed that the protective effect of the rs10492972[C] allele is statistically significant (OR=0.95, C.I.95% [0.90-0.99], p=0.02).
authors.affiliation: Institute of Chemical Biology and Fundamental Medicine, Siberian Division, Russian Academy of Sciences, Prosp. Lavrent'eva, 8, 630090 Novosibirsk, Russia.
authors.forename: Ekaterina A
authors.initials: EA
authors.lastname: Kudryavtseva
authors.forename: Aleksei S
authors.initials: AS
authors.lastname: Rozhdestvenskii
authors.forename: Anastasia V
authors.initials: AV
authors.lastname: Kakulya
authors.forename: Elena V
authors.initials: EV
authors.lastname: Khanokh
authors.forename: Roman A
authors.initials: RA
authors.lastname: Delov
authors.forename: Nadezhda A
authors.initials: NA
authors.lastname: Malkova
authors.forename: Denis S
authors.initials: DS
authors.lastname: Korobko
authors.forename: Fedor A
authors.initials: FA
authors.lastname: Platonov
authors.forename: Elena G
authors.initials: EG
authors.lastname: Aref Eva
authors.forename: Natalia N
authors.initials: NN
authors.lastname: Zagorskaya
authors.forename: Valentina M
authors.initials: VM
authors.lastname: Aliferova
authors.forename: Marina A
authors.initials: MA
authors.lastname: Titova
authors.forename: Sergei A
authors.initials: SA
authors.lastname: Babenko
authors.forename: Inna V
authors.initials: IV
authors.lastname: Smagina
authors.forename: Svetlana A
authors.initials: SA
authors.lastname: El Chaninova
authors.forename: Anna G
authors.initials: AG
authors.lastname: Zolovkina
authors.forename: G I
authors.initials: GI
authors.lastname: Lifshits
authors.forename: Valerii P
authors.initials: VP
authors.lastname: Puzyrev
authors.forename: Maxim L
authors.initials: ML
authors.lastname: Filipenko
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D056426:Genetic Loci / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D012426:Russia; D018709:Statistics, Nonparametric
chemical_list: D017931:DNA Primers; C091053:KIF1B protein, human; D016547:Kinesins