title: [Analysis of the MTHFR gene linkage disequilibrium structure and association of polymorphic gene variants with coronary atherosclerosis].
abstract: Analysis of the genome-specific linkage disequilibrium patterns in certain populations is a highly promising approach to the identification of functional variants that underlie susceptibility to complex diseases. In the present study, the linkage disequilibrium patterns of the methylenetetrahydrofolate reductase gene (MTHFR) were examined in a group of patients with coronary atherosclerosis (coronary artery disease, CAD) and in a control sample from the Russian population. It was demonstrated that in the samples from one population, which were differentiated by the presence or absence of CAD, the MTHFR linkage disequilibrium patterns had similar features. Association of the MTHFR rs7533315 and rs2066462 polymorphisms with CAD was demonstrated. In addition, the evolution of the haplotypes and their role in the formation of CAD in the Russian population was reconstructed. The data on the association between genetic variability in the MTHFR locus and pathogenetically important indices of lipid metabolism were obtained. The high informativeness of the haplotype approach in case-control tests for associations with CAD was demonstrated.
authors.affiliation: Research Institute of Medical Genetics, Siberian Branch of the Russian Academy of Medical Sciences, Tomsk, 634050 Russia.
authors.forename: E A
authors.initials: EA
authors.lastname: Trifonova
authors.forename: M G
authors.initials: MG
authors.lastname: Spiridonova
authors.forename: T V
authors.initials: TV
authors.lastname: Gabidulina
authors.forename: F D
authors.initials: FD
authors.lastname: Urnov
authors.forename: V P
authors.initials: VP
authors.lastname: Puzyrev
authors.forename: V A
authors.initials: VA
authors.lastname: Stepanov
mesh_terms: D000328:Adult; D000483:Alleles; D003324:Coronary Artery Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D040961:Genetic Drift; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D050356:Lipid Metabolism / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012426:Russia
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)