Polymorphic locus rs10492972 of the KIF1B gene association with multiple sclerosis in Russia: case control study
| Autor: | Anastasia Vladimirovna Kakulya, Maxim L. Filipenko, Anna G. Zolovkina, M. Titova, Valerii P. Puzyrev, Natalia Nikolaevna Zagorskaya, Aleksei S. Rozhdestvenskii, Elena Gennadievna Aref′eva, D. S. Korobko, Delov Ra, N A Malkova, Sergei A. Babenko, I. V. Smagina, Valentina M. Aliferova, Khanokh Ev, G. I. Lifshits, Ekaterina A. Kudryavtseva, Svetlana Alksandrovna El′chaninova, Fedor Alekseevich Platonov |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Multiple Sclerosis Genotype Endocrinology Diabetes and Metabolism Kinesins Disease Biology Biochemistry Statistics Nonparametric Russia Endocrinology Gene Frequency Polymorphism (computer science) Genetics medicine Genetic predisposition Odds Ratio Humans Genetic Predisposition to Disease Allele Molecular Biology Gene Genetic Association Studies DNA Primers Polymorphism Genetic Multiple sclerosis Case-control study Middle Aged medicine.disease Genetic Loci Case-Control Studies Female |
| Zdroj: | Molecular genetics and metabolism. 104(3) |
| ISSN: | 1096-7206 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect