title: [Prevalence of alleles of polymorphic variants Leu33Pro and Leu66Arg gene ITGB3 among inhabitants of Siberia].
abstract: The frequency of the polymorphic variant T196C (Leu33Pro, rs5918) of ITGB3 gene was studied in several groups of inhabitants of Siberia, including pregnant women with reproductive disorders (n = 186), patients with acute coronary syndrome (n = 330), and population control (n = 858). The frequency of the rare PLA2 allele among residents of Tomsk and Kemerovo was 14.7 and 15.0% respectively. There were no differences in the allele and genotype frequencies of polymorphic variant between patients with acute coronary syndrome and the control group (p = 0.925, p = 0.622). The highest frequency of abnormal PLA2 allele (22.1%) and the PLA2/PLA2 genotype (8.8%) was observed among women, who had miscarried, which was significantly different from the frequency of this allele and genotype in the control group (14.7%, p = 0.017; 2.1%, p = 0.0009). Sequencing showed that all samples with the nonspecific band had the polymorphic rs5918 variant and rs36080296 mutations (T216G, Leu66Arg). The frequency of the rs36080296 mutation among the residents of Siberia was 0.51%. Among the women with reproductive disorders, the frequency of rs36080296 was 2.7%, while in the group who suffered from miscarriages, it was 4.4%; this was different from the frequency in the control group (0.08%, p = 0.2 x 10(-6)). The accumulation of mutations was also observed among men with acute coronary syndrome (0.6%), but the differences from the control group (0%) had no statistical significance.
authors.forename: I A
authors.initials: IA
authors.lastname: Goncharova
authors.forename: N P
authors.initials: NP
authors.lastname: Babushkina
authors.forename: L I
authors.initials: LI
authors.lastname: Minaĭcheva
authors.forename: V V
authors.initials: VV
authors.lastname: Markova
authors.forename: E V
authors.initials: EV
authors.lastname: Kulish
authors.forename: R R
authors.initials: RR
authors.lastname: Salakhov
authors.forename: O A
authors.initials: OA
authors.lastname: Makeeva
authors.forename: V P
authors.initials: VP
authors.lastname: Puzyrev
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics; D054058:Acute Coronary Syndrome / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D039661:Integrin beta3 / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012800:Siberia
chemical_list: C061248:ITGB3 protein, human; D039661:Integrin beta3