Science 2002;297:1333-1336, 53. Proc Natl Acad Sci U S A 2000;97:10613-10618, 87. These mutations, which impair renal salt handling, provide a molecular basis for understanding the pathogenesis of hypertension (Figure 2).11. The molecular cause is the presence of defects in a putative hepatic adaptor protein, which then fails to clear plasma LDL with LDL receptors.9 Mutations in the gene encoding that protein (ARH) elevate plasma LDL to levels similar to those seen in homozygous familial hypercholesterolemia. Gerdes LU, Gerdes C, Kervinen K, et al. Missense mutations in hWNK4, on chromosome 17, also cause pseudohypoaldosteronism type II. Angiotensin-I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy. Garcia CK, Wilund K, Arca M, et al. Am J Med 1999;106:544-549, 73. Small KM, Wagoner LE, Levin AM, Kardia SLR, Liggett SB. Information, resources, and support needed to approach rotations - and life as a resident. Deficiency of lipoprotein transport abolishes transporter activity, resulting in elevated cholesterol absorption and LDL synthesis. Greengard JS, Eichinger S, Griffin JH, Bauer KA. Cardiac conduction defects associate with mutations in SCN5A. Nature 2001;409:1043-1047, 52. Left ventricular hypertrophy with exercise and ACE gene insertion/deletion polymorphism: a randomized controlled trial with losartan. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. DOI: 10.1056/NEJMra035098, Alan E. Guttmacher, M.D., Editor, Francis S. Collins, M.D., Ph.D., Editor, Tap into groundbreaking research and clinically relevant insights. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Science 2001;293:1107-1112, 13. The GeneQuest study investigated 62 candidate genes in patients and their siblings with premature myocardial infarction (men <45 years old and women <50 years old).63 In this study, a case–control approach comparing genomic sequences in 72 single-nucleotide polymorphisms between persons with premature coronary artery disease and members of a control population identified three variants in the genes encoding thrombospondin-4, thrombospondin-2, and thrombospondin-1 that showed a statistical association with premature coronary artery disease. Bowles, Kathryn H. The Journal of Cardiovascular Nursing. Nat Genet 1997;16:379-382, 40. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Nature 1992;355:262-265, 14. With regard to complex traits in more common cardiovascular diseases, current research is identifying functionally significant variations in DNA sequences that can establish a molecular diagnosis and influence patients' outcome. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Favorites; PDF. (Accessed June 10, 2003, at Kamisago M, Sharma SD, DePalma SR, et al. Yamada Y, Izawa H, Ichihara S, et al. The renin–angiotensin system tightly regulates the activity of the epithelial sodium channels. A sodium-channel mutation causes isolated cardiac conduction disease. The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. ], 16. Molecular and cellular mechanisms of cardiac arrhythmias. In a study that examined the effects of agonist-induced desensitization in the vasculature mediated by these polymorphisms, the investigators found that persons who were homozygous for Arg16 had nearly complete desensitization, as determined by measures of venodilation in response to isoproterenol, in contrast to persons homozygous for Gly16 and regardless of the codon 27 status.79 Similarly, persons homozygous for Gln27 had higher maximal venodilation in response to isoproterenol than those homozygous for Glu27, regardless of their codon 16 status.

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