Multiple genes for essential-hypertension susceptibility on chromosome 1q

Essential hypertension, defined as elevated levels of blood pressure (BP) without any obvious cause, is a major risk factor for coronary heart disease, stroke, and renal disease. BP levels and susceptibility to development of essential hypertension are partially determined by genetic factors that ar...

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Veröffentlicht in:American journal of human genetics Jg. 80; H. 2; S. 253
Hauptverfasser: Chang, Yen-Pei Christy, Liu, Xin, Kim, James Dae Ok, Ikeda, Morna A, Layton, Marnie R, Weder, Alan B, Cooper, Richard S, Kardia, Sharon L R, Rao, D C, Hunt, Steve C, Luke, Amy, Boerwinkle, Eric, Chakravarti, Aravinda
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States 01.02.2007
Schlagworte:
Adolescent
Adult
Alleles
Chromosomes, Human, Pair 1 - genetics
E-Selectin - genetics
Female
Genetic Linkage
Genetic Predisposition to Disease
Genome, Human
Humans
Hypertension - genetics
Male
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
RGS Proteins - genetics
Sodium-Potassium-Exchanging ATPase - genetics
ISSN:0002-9297
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Zusammenfassung:Essential hypertension, defined as elevated levels of blood pressure (BP) without any obvious cause, is a major risk factor for coronary heart disease, stroke, and renal disease. BP levels and susceptibility to development of essential hypertension are partially determined by genetic factors that are poorly understood. Similar to other efforts to understand complex, non-Mendelian phenotypes, genetic dissection of hypertension-related traits employs genomewide linkage analyses of families and association studies of patient cohorts, to uncover rare and common disease alleles, respectively. Family-based mapping studies of elevated BP cover the large intermediate ground for identification of genes with common variants of significant effect. Our genomewide linkage and candidate-gene-based association studies demonstrate that a replicated linkage peak for BP regulation on human chromosome 1q, homologous to mouse and rat quantitative trait loci for BP, contains at least three genes associated with BP levels in multiple samples: ATP1B1, RGS5, and SELE. Individual variants in these three genes account for 2-5-mm Hg differences in mean systolic BP levels, and the cumulative effect reaches 8-10 mm Hg. Because the associated alleles in these genes are relatively common (frequency >5%), these three genes are important contributors to elevated BP in the population at large.
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ISSN:0002-9297
DOI:10.1086/510918