Restriction fragment length polymorphisms associated with abnormal lipid levels in an adolescent population.

The association of restriction fragment length polymorphism genetic markers at the apolipoprotein AI-CIII-AIV gene locus with lipid and lipoprotein levels was evaluated in subsets of the 666 Caucasian students from the junior high school (11-14 years old) population of Muscatine, Iowa. Male students whose leukocyte DNA had an uncommon haplotype consisting of the minor allele of a SacI restriction site polymorphism (S2) in combination with the more common allele of an MspI site variation (M1) had significantly lower levels of high density lipoprotein (HDL)-cholesterol (P less than 0.05) when compared to a random sample of males; these levels were stable over a 2-year follow-up. The minor allele of an XmnI restriction site polymorphism (X2) was more frequent in females with triglyceride levels in the upper decile of the age and gender-specific triglyceride distribution than in normotriglyceridemic females (0.10 less than P less than 0.15) and triglyceride levels were higher in random sample females with an X2 allele than in X1 homozygotes (P less than 0.10). These results suggest that alleles of the known apolipoprotein genes (AI, CIII, AIV) at this locus or closely linked gene sequences may have major effects on lipid levels in members of the general population.