title: [Influence of plasma lipids, APOE genotype and type of LDL receptor gene mutations on myocardial infarction in subjects with familial hypercholesterolemia].
abstract: BACKGROUND
  Our goal was to analyze the relationship of lipids and lipoproteins, APOE genotype and mutations of the LDL receptor gene with the prevalence of myocardial infarction (MI) in patients with familial hypercholesterolemia (FH) from a Southern European FH population.
  
  
  METHODS
  We studied 108 heterozygous FH subjects aged > 35 years (41 males). It was a cross-sectional study comparing individuals with FH and MI with individuals with FH without MI. In 88 FH subjects, a mutation of the LDL receptor gene was detected. These FH subjects were divided in carriers of null mutation or no null mutations. We compared lipids and lipoproteins and prevalences of LDL receptor type mutation and APOE genotype.
  
  
  RESULTS
  Parameters associated with MI were: age, presence of xanthomas and arcus cornealis, plasma concentrations of total cholesterol (TC), LDLc, TC/HDLc ratio > 5.3 and *4 genotype of the APOE gene. Odds ratio for MI were as follows: presence of xanthomas and arcus cornealis, 1.36 (CI 95%, 1.08-1.71; P = 0.01), age > 54 years (50 th of FH group), 1.56 (CI 95%, 1.19-2.04; P = 0.001) and plasma TC values > 332 mg/dl (50 th of FH group), 1.34 (CI 95%, 1.05-1.71; P = 0.019). In the logistic regression model, only age and TC were significantly associated with MI.
  
  
  CONCLUSIONS
  In FH subjects aged over 35 years from a Southern European population, MI is associated with age, plasma TC and LDLc values, TC/HDLc ratio and the *4 genotype. In addition, MI is related with age and TC plasma levels on an independent basis.
authors.affiliation: Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario, Departamento de Medicina, Universidad de Valencia, Spain.
authors.forename: José T
authors.initials: JT
authors.lastname: Real
authors.forename: Juan F
authors.initials: JF
authors.lastname: Ascaso
authors.forename: Felipe J
authors.initials: FJ
authors.lastname: Chaves
authors.forename: Cintia
authors.initials: C
authors.lastname: González
authors.forename: Oscar
authors.initials: O
authors.lastname: Puig
authors.forename: María E
authors.initials: ME
authors.lastname: Armengod
authors.forename: Rafael
authors.initials: R
authors.lastname: Carmena
mesh_terms: D000328:Adult; D000368:Aged; D001057:Apolipoproteins E / Q000235:genetics*; D002784:Cholesterol / Q000097:blood; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000235:genetics*; D008055:Lipids / Q000097:blood*; D008075:Lipoproteins, HDL / Q000097:blood; D008077:Lipoproteins, LDL / Q000097:blood; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009203:Myocardial Infarction / Q000453:epidemiology / Q000209:etiology*; D016017:Odds Ratio; D015995:Prevalence; D011973:Receptors, LDL / Q000235:genetics*; D012307:Risk Factors
chemical_list: D001057:Apolipoproteins E; D008055:Lipids; D008075:Lipoproteins, HDL; D008077:Lipoproteins, LDL; D011973:Receptors, LDL; D002784:Cholesterol