title: [Genetic factors of risk of ischemic heart disease development in patients with familial hypercholesterolemia].
abstract: Ischemic heart disease (IHD) develops in patients with familial hypercholesterolemia (FHC) 15-20 years earlier than in general population. However age of onset of the disease, its clinical manifestations are variable and not completely determined by cholesterol level and class of low density lipoprotein receptor mutations.
  
  
  OBJECTIVE
  To elucidate associations of some auxiliary genetic factors -- such as C151565T, C677T, R353Q polymorphisms of glycoprotein IIIa (GPIIIa), methylenetetrahydrofolate reductase (MTHFR) and coagulation factor VII genes, respectively, -- with the presence of IHD in patients with FHC.
  
  
  METHODS
  Patients with clinical diagnosis of heterozygous FHC (n=198) with (n=106) and without (n=92) IHD.
  
  
  RESULTS
  Patients with compared with those without IHD had similar frequency of T-allele of MTHFR gene (p=0.519), more often had T-allele of GPIIIa gene (23 and 12.5%, respectively, p=0.009), and less often -- Q-allele of factor VII gene (13 and 21%, respectively, p=0.048). Multifactorial analysis showed that risk of IHD was higher in patients with TT compared with CC genotype of the GPIIIa gene (OR 1.53, 95%CI 1.12-2.3), and lower in patients with RQ and QQ compared with RR genotype of factor VII gene (OR 0.41, 95%CI 0.19-0.75).
  
  
  CONCLUSIONS
  In patients with FHC polymorphisms in factor VII and GPIIIa genes but not C677T polymorphism of MTHFR gene were associated with the presence of IHD.
authors.forename: A N
authors.initials: AN
authors.lastname: Meshkov
authors.forename: D V
authors.initials: DV
authors.lastname: Stambol'skiĭ
authors.forename: L A
authors.initials: LA
authors.lastname: Nikitina
authors.forename: S M
authors.initials: SM
authors.lastname: Abdullaev
authors.forename: V N
authors.initials: VN
authors.lastname: Bochkov
authors.forename: V A
authors.initials: VA
authors.lastname: Tkachuk
authors.forename: V V
authors.initials: VV
authors.lastname: Kukharchuk
authors.forename: P P
authors.initials: PP
authors.lastname: Malyshev
mesh_terms: D000328:Adult; D002784:Cholesterol / Q000097:blood; D005167:Factor VII / Q000235:genetics; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000150:complications / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D017202:Myocardial Ischemia / Q000097:blood / Q000209:etiology* / Q000235:genetics; D011110:Polymorphism, Genetic; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects; D013997:Time Factors
chemical_list: D005167:Factor VII; D002784:Cholesterol; D042965:Methylenetetrahydrofolate Reductase (NADPH2)