Cardiovascular Genomics by Mohan K. Raizada, Julian F. R. Paton, Michael J. Katovich,

By Mohan K. Raizada, Julian F. R. Paton, Michael J. Katovich, Sergey Kasparov

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Hypertension 2000;35:717–721. 84. Amant C, Hamon M, Bauters C, et al. The angiotensin II type 1 receptor gene polymorphism is associated with coronary artery vasoconstriction. J Am Cell Cardiol 1997 29:486-490. 85. Steeds RP, Toole LO, Channer KS, Morice AH. Human vascular reactivity and polymorphisms of the angiotensin-converting enzyme and the angiotensin type 1 receptor genes. J Vasc Res 1999;36:445–455. 86. Vuagnat A, Giacche M, Hopkins PN, et al. Blood pressure response to angiotensin II, low-density lipoprotein cholesterol and polymorphisms of the angiotensin II type 1 receptor gene in hypertensive sibling pairs.

It is possible that polymorphisms in the promoter of a gene may affect the binding of transcription factors to this region of the promoter and alter the transcriptional regulation of the gene. For example, it has been shown that a single nucleotide polymorphism in the CD14 28 Kumar promoter decreases the affinity of SP1 transcription factor binding and enhances transcriptional activity (47). Similarly two mutations in the promoter of human protein-C gene cause type-1 protein-c deficiency by disruption of two HNF-3 binding sites (48).

An interesting candidate gene in the chromosome 18 interval is the melanocortin receptor 2, which is the physiological receptor for corticotropin. Given the known effects of glucocorticoids on BP, it is of interest that receptors involved in the regulation of cortisol secretion lie in both the chromosome 17 and chromosome 18 intervals. From this brief review it is clear that although different regions of the chromosome have been shown to be involved in the regulation of BP, these studies are often nonreproducible and genes involved in hypertension remain to be identified.

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