DNA POLYMORPHISMS OF HUMAN APOLIPOPROTEIN A-IV GENE - FREQUENCY AND EFFECTS ON LIPID, LIPOPROTEIN AND APOLIPOPROTEIN LEVELS IN A FRENCH POPULATION

Genetic polymorphisms of apolipoprotein (apo) A-IV have been shown to influence lipoprotein metabolism in some human populations. In this st udy, we have evaluated the physiological effect of three ape A-IV poly morphisms (Gln(360->His), Thr(347->Ser) and XbaI within the second int ron of the apo A-IV gene), in a French population, on seven quantitati ve traits: total cholesterol and triglycerides, cholesterol of HDL, ap o A-IV, apo B, apo A-I and glucose. The polymorphism at amino-acid 360 was determined by direct analysis of polymerase chain reaction produc ts. The allele frequencies were 0.92 for the A-IV1 and 0.08 for the A- IV2 allele. The genetic polymorphism at codon 347 was investigated by allele-specific oligonucleotide hybridization. The allele frequencies of the two alleles, A-IV347Thr and A-IV347Ser, were 0.78 and 0.22, res pectively. The XbaI polymorphism was investigated by polymerase chain reaction followed by XbaI restriction enzyme digestion of the amplifie d products. The frequencies of the two ape, A-IV alleles, XbaI-1 and X baI-2, were 0.79 and 0.21, respectively. None of the three apo A-IV po lymorphisms had a significant effect on lipoprotein, apolipoprotein an d glucose levels.