A review of recent genetic epidemiological studies of blood pressure

Heritability estimates for systolic blood pressure and diastolic blood pressure reach 30%-40%. Blood pressure aggregation in families appears to be predominantly accounted for by genetic determinants rather than familial environments. Segregation analyses revealed major gene effects, which accounted for 10% and 30% of the variance for systolic blood pressure and diastolic blood pressure, respectively. Blood pressure is also influenced by a multifactorial component (heritability 20%-30%). A few candidate genes or regions for human hypertension were suggested by previous linkage/association studies, involving components of the renin angiotensin aldosterone system, sympathetic nervous system, calcium transport, Na-H antiporter, and endothelial nitric oxide synthase. Several sibpair based genome wide linkage analyses have emerged. Linkage was evidenced for systolic blood pressure with four regions on chromosomes 2p22.1-21, 5q33.3-34, 6q23.1-24.1, and 15q25. 1- 26.1 of the human genome and a region around the lipoprotein lipase locus on chromosome 8p22. Other genome wide linkage studies on human blood pressure variation and hypertension are aggressively in progress. In this paper, familial aggregation, segregation, and linkage analyses of blood pressure are reviewed. (C)2000 by CVRandR, Inc.