title: Identification of putative beneficial mutations for lipid transport.
abstract: To determine the effect of a common mutation (Ser447-Ter) of the human LPL gene upon serum lipid and lipoprotein levels and coronary artery disease (CAD) within a representative adult male population, we analyzed subjects from the Caerphilly Prospective Heart Disease Study (n = 1273). The possession of this mutation associates with protective lipid and lipoprotein profiles. Subjects possessing the mutation have significantly higher HDL-C (p = 0.002) and apo AI (p < 0.04) levels, lower triglycerides (p = < 0.04) and total cholesterol/HDL-C ratios (p < 0.02); all established previously to reduce risk of CAD. We also find that this mutation is significantly less frequent amongst CAD subjects (p < 0.05). These associations provide evidence for a common mutation that appears to confer beneficial lipid and lipoprotein profiles amongst an adult male population with regard to risk of CAD.
authors.affiliation: Medical Professorial Unit, St Bartholomew's Hospital, London, U.K.
authors.forename: D J
authors.initials: DJ
authors.lastname: Galton
authors.forename: R
authors.initials: R
authors.lastname: Mattu
authors.forename: E W
authors.initials: EW
authors.lastname: Needham
authors.forename: J
authors.initials: J
authors.lastname: Cavanna
mesh_terms: D000328:Adult; D016632:Apolipoprotein A-I / Q000097:blood; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D003327:Coronary Disease / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D015971:Gene Expression Regulation, Enzymologic / Q000502:physiology; D005787:Gene Frequency; D006801:Humans; D008055:Lipids / Q000097:blood*; D008071:Lipoprotein Lipase / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood*; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D012307:Risk Factors; D014280:Triglycerides / Q000097:blood
chemical_list: D016632:Apolipoprotein A-I; D008076:Cholesterol, HDL; D008055:Lipids; D008074:Lipoproteins; D014280:Triglycerides; D002784:Cholesterol; D008071:Lipoprotein Lipase