A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia

Summary A polymorphism of the apolipoprotein AII gene (on chromosome 1) was investigated using genomic hybridisation analysis. The two common alleles at this locus were defined by MspI restriction fragments of 3.0 kilobase pairs (M3.0) and 3.7 kilobase pairs (M3.7) respectively. The M3.7 allele was significantly more common (P<0.02) in Caucasian subjects who were normo-lipaemic (34%, 20/59) than in those who were hypertriglyceridaemic (16%, 16/98). Serum triglyceride levels were measured in 126 Caucasian subjects with different combinations of disease-associated alleles at the Apo AII and Apo CIII gene loci. Mean serum triglyceride levels were found to be significantly higher (P<0.05) in subjects with disease-associated alleles of both the Apo CIII and Apo AII genes, compared with subjects with a disease-associated allele of one or neither locus.