title: [Differences in allele frequency at the BAIB locus, determining the level of expression of beta-aminoisobutyric acid, in healthy donors and coronary artery atherosclerosis patients from Buryat and Lithuanian populations].
abstract: Phenotype and allele frequencies of the genetically dimorphic system determining urinary excretion of beta-aminoisobutyric acid (BAIB) were studied in population samples of Buryats from the Aginskii Buryat Autonomous District and Lithuanians from Vilnius and in patients with coronary atherosclerosis (CA) from both populations. Frequency of allele BAIB*b, which determines high BAIB excretion, proved to be more than twice higher in Buryats compared with the population sample of Lithuanians (0.620 versus 0.289, respectively). The proportion of individuals with high BAIB excretion in CA patients of either ethnic sample was twice higher than in the corresponding control sample. Frequency of allele BAIB*b in CA patients and healthy individuals was 0.348 and 0.242, respectively, in the Lithuanian population and 0.775 and 0.557, respectively, in the Buryat population. Thus, assessment of urinary excretion of BAIB proved to be prognostically valuable. The method used to detect a variation in BAIB excretion is relatively inexpensive, simple, and suitable for mass screening of patients and healthy individuals (population control). After additional testing with representative samples, the method can be used as an accessory diagnostic test in patients with cardiovascular disorders.
authors.affiliation: Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow, 115478 Russia.
authors.forename: V A
authors.initials: VA
authors.lastname: Spitsyn
authors.forename: I S
authors.initials: IS
authors.lastname: Afanas'eva
mesh_terms: D000483:Alleles; D000613:Aminobutyrates / Q000378:metabolism*; D016022:Case-Control Studies; D003324:Coronary Artery Disease / Q000235:genetics* / Q000378:metabolism; D005006:Ethnicity; D005787:Gene Frequency; D006801:Humans; D008097:Lithuania; D010641:Phenotype; D012426:Russia
chemical_list: D000613:Aminobutyrates; C047667:3-aminobutyric acid
vernacular_title: Razlichiia v chastotakh alleleĭv lokuse BAIB, opredeliaiushchem uroven' ĭ ékspretsii beta-aminoizomaslianoĭ kisloty, u zdorovykh donorov i bol'nykh aterosklerozom koronarnykh arteriĭ iz buriatskoĭ i litovskoĭ populiatsiĭ.