title: [Association between variants of lipoprotein lipase and coronary heart disease in a Tunisian population].
abstract: OBJECTIVE
  Coronary artery disease (CAD) is a complex multifactorial disease due to the interaction of multiple genes variations and environmental factors. Genetic variants of lipoprotein lipase (LPL), a key enzyme in the hydrolysis of triglyceride rich particles, may contribute to CAD. We analysed here the frequency of LPL variants (p.Asp9Asn, p.Asn291Ser and p.Ser447X) in a Tunisian population as well as their association with circulating lipid level and risk of CAD.
  
  
  METHODS
  LPL variations were investigated by PCR-RFLP and lipid parameters were measured in 135 patients and 109 controls.
  
  
  RESULTS
  The frequency of the p.Asp9Asn variation was 10.37% in CAD patients versus 3.66% in controls. The frequency for the p.Ser447X variation was 8.8% in CAD patients versus 13.7% in controls. There was no significant association between these two variants and CAD. The p.Asn291Ser mutation variation was absent in this population. In healthy subjects, heterozygote carriers of the p.Asp9Asn substitution had a significant increase level of total cholesterol (4.2±0.9mmol/L vs 5.6±1.2mmol/L; P=0.01) and a decreased level of HDL-cholesterol (1.36±0.3mmol/L vs 0.93±0.1mmol/L; P=0.045).
  
  
  CONCLUSIONS
  There was no significant association between genetic variants of the LPL gene and CAD in this Tunisian population. The very low frequency of the p.Asn291Ser variation may be an ethnic specificity of Tunisians.
authors.affiliation: Unité de recherche de facteurs génétiques et biologiques de l'athérosclérose, faculté de médecine, Monastir, Tunisie.
authors.forename: A
authors.initials: A
authors.lastname: Jelassi
authors.forename: I
authors.initials: I
authors.lastname: Jguirim
authors.forename: A
authors.initials: A
authors.lastname: Slimani
authors.forename: M
authors.initials: M
authors.lastname: Najah
authors.forename: K B
authors.initials: KB
authors.lastname: Hamda
authors.forename: F
authors.initials: F
authors.lastname: Addad
authors.forename: M
authors.initials: M
authors.lastname: Hassine
authors.forename: F
authors.initials: F
authors.lastname: Maatouk
authors.forename: M
authors.initials: M
authors.lastname: Varret
authors.forename: M N
authors.initials: MN
authors.lastname: Slimane
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D001216:Asparagine / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D016022:Case-Control Studies; D003327:Coronary Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D012694:Serine / Q000235:genetics; D014416:Tunisia / Q000453:epidemiology
chemical_list: D001224:Aspartic Acid; D012694:Serine; D001216:Asparagine; D008071:Lipoprotein Lipase