title: Apolipoprotein E genotype is not associated with cardiovascular disease in heterozygous subjects with familial hypercholesterolemia.
abstract: BACKGROUND
  Familial hypercholesterolemia (FH) is a genetic disorder characterized by high low-density lipoprotein cholesterol levels and premature cardiovascular disease (CVD). There are important differences in the presence of CVD among heterozygous subjects with FH. Some of this variability can be explained by genetic factors, and the apolipoprotein (apo) E genotype has been proposed as a useful marker.
  
  
  METHODS
  We analyzed the apo E genotype in 706 non-related subjects who were heterozygous for FH from Spain. CVD was present in 198 subjects (28%), 132 men (41%) and 66 women (17%).
  
  
  RESULTS
  Apo E allele frequencies for the epsilon 3, epsilon 4, and epsilon 2 alleles were 0.89, 0.09, and 0.02 respectively. Age, body mass index, smoking status, high blood pressure, diabetes mellitus, presence of tendon xanthomas, total cholesterol level, triglyceride levels, high-density lipoprotein cholesterol level, low-density lipoprotein cholesterol level, and Lp(a) did not differ among genotypes. The incidence of CVD and the age of onset of CVD did not differ among genotypes either. In the multivariant analysis, apo E genotype did not contribute significantly to CVD.
  
  
  CONCLUSIONS
  Heterozygous men with FH have a very high risk of coronary disease in a Mediterranean country, and the apo E genotype in this large group of adults with FH is not associated either with CVD or lipid values, in contrast with the established effect in the general population.
authors.affiliation: Departamento Bioquímica, Biología Molecular-Celular, Universidad de Zaragoza, Zaragoza, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Mozas
authors.forename: S
authors.initials: S
authors.lastname: Castillo
authors.forename: G
authors.initials: G
authors.lastname: Reyes
authors.forename: D
authors.initials: D
authors.lastname: Tejedor
authors.forename: F
authors.initials: F
authors.lastname: Civeira
authors.forename: I
authors.initials: I
authors.lastname: García-Alvarez
authors.forename: J
authors.initials: J
authors.lastname: Puzo
authors.forename: A
authors.initials: A
authors.lastname: Cenarro
authors.forename: R
authors.initials: R
authors.lastname: Alonso
authors.forename: P
authors.initials: P
authors.lastname: Mata
authors.forename: M
authors.initials: M
authors.lastname: Pocoví
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D001057:Apolipoproteins E / Q000235:genetics*; D002318:Cardiovascular Diseases / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged
chemical_list: D001057:Apolipoproteins E