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Hypertension. 2008;51:1456-1464
Published online before print April 14, 2008, doi: 10.1161/HYPERTENSIONAHA.107.090480
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(Hypertension. 2008;51:1456.)
© 2008 American Heart Association, Inc.


Hypertension Highlights

Hereditary Determinants of Human Hypertension

Strategies in the Setting of Genetic Complexity

Pei-an Betty Shih; Daniel T. O'Connor

From the Departments of Medicine and Pharmacology, Center for Human Genetics and Genomics, University of California at San Diego, and VA San Diego Healthcare System, San Diego, Calif.

Correspondence to Daniel T. O'Connor, MD, Department of Medicine (0838), UCSD School of Medicine and VASDHS, 9500 Gilman Dr, La Jolla, CA 92093-0838. E-mail doconnor@ucsd.edu


An extract of the first 250 words of the full text is provided, because this article has no abstract.
 


*    Introduction
 
Essential hypertension is characterized by chronically elevated blood pressure with no specific underlying medical cause. Data on family history of affected individuals coupled with disease concordance rate in twins has established that both genetic and environmental factors determine susceptibility to hypertension. The heritability of hypertension is often cited in the range of {approx}30% to 60%, with multiple contributory genes; additionally, ethnic and genetic heterogeneity participate in variable clinical presentation and drug response in hypertension, rendering genetic study of this disease a challenging task. Human population and animal studies have implicated several important etiologic pathways contributing to the clinical presentation of essential hypertension that enable functional candidate gene association studies, in addition to more comprehensive genome wide linkage or association studies. Recent results also suggest a complex genetic architecture for hypertension and its associated risk traits, including evidence for pleiotropy (one gene->multiple traits), epistasis (gene-by-gene interaction), and on occasion molecular heterosis (a more extreme phenotype for heterozygotes than either homozygote class). Here we highlight recent findings on the genetics of hypertension that may lead to new approaches for investigating the pathogenesis, diagnosis, treatment, and prognosis of the disease.


*    Manifestations of Heredity: Heritability, Twin Pairs, Genetic Pleiotropy, and "Intermediate Phenotypes" for Susceptibility to Hypertension
 
Although blood pressure displays substantial heritability, typically reported at {approx}30% to 60%,1 hypertension is likely to be a heterogeneous phenotype (trait). Applying the concept of "intermediate phenotypes"2,3 might enhance risk assessment for the development of future hypertension and its consequences, thus enabling more timely diagnosis and management of even "prehypertensive" individuals. Such intermediate phenotypes may be influenced earlier and more proximately by . . . [Full Text of this Article]




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