POLYMORPHISMS OF THE LIPOPROTEIN-LIPASE GENE AND PREMATURE ATHEROSCLEROSIS

Allelic frequencies of polymorphic variants at the lipoprotein lipase gene locus have been measured in subjects with premature coronary arte ry disease and dyslipidaemia. One of the polymorphic variants involves a termination codon in exon 9 that produces a truncated protein whose Michaelis constants for triolein or chylomicra are identical to the n ative enzyme but whose V-max for both substrates may be increased. The other informative polymorphism is a HindIII site in intron 8 that sho ws marked assymetric allelic distribution in subjects with hypertrigly ceridaemia/low HDL syndrome and in subjects with premature coronary ar tery disease. It is hoped that the marker may lead to the identificati on of an aetiological mutation in its vicinity to account for these di sease associations.