The relation between the PST1 restriction fragment length polymorphism at the APO-AI locus and plasma APO-AI concentrations in marathon runners.

A PST1 restriction fragment length polymorphism (RFLP), located close to the apolipoprotein AI (apo-AI) gene on chromosome 11, is associated with elevated levels of apo-AI in normal healthy individuals and with depressed levels in patients with coronary heart disease. In both cases the association is with the P2 allele (the allele not containing the PST1 cutting site). Prolonged exercise is known to increase steady-state plasma apo-AI concentrations.

Selected risk factors for coronary heart disease in male scholars from the major South African population groups.

A number of risk factors for coronary heart disease (CHD) in 7 groups of South African male scholars aged between 15 and 20 years were surveyed. Selection of the groups was based on socioeconomic status and comprised urban and rural blacks, Indians of higher and lower socio-economic status, coloureds of higher and lower socioeconomic status, and middle-class whites. Both Indian groups, both coloured groups and the whites had a much greater prevalence and severity of CHD risk factors than the two black groups.

Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia.

Simvastatin, an inhibitor of HMG CoA reductase, lowers the plasma total cholesterol and LDL-cholesterol concentration in familial hypercholesterolemic patients. The efficacy of the drug shows considerable inter-individual variation, however. In this study we have assessed the influence of certain LDL-receptor gene mutations on this variation.

A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density-lipoprotein (LDL) receptor. Here we characterize an LDL-receptor founder mutation that is associated with a distinct LDL-receptor haplotype and is responsible for FH in 35% of 71 Jewish-Ashkenazi FH families in Israel. Sixty four percent (16/25) of the Ashkenazi patients who carry this mutant allele were of Lithuanian origin.

G to A substitution in the promoter region of the apolipoprotein AI gene is associated with elevated serum apolipoprotein AI and high density lipoprotein cholesterol concentrations.

We have determined the sequence of 250 bases 5' of the transcriptional start site of the apolipoprotein AI gene in a human individual with high serum concentrations of apo AI. One of the alleles contained a G to A substitution at position -75, between the CACAT sequence and the TAAATA box, creating a tandem repeat, CAGGGC-CA*GGGC. The substitution destroys an MspI cutting site, and the polymerase chain reaction and MspI digestion were used to identify the presence of the A or G base.