Final published version
Research output: Contribution to Journal/Magazine › Journal article › peer-review
Research output: Contribution to Journal/Magazine › Journal article › peer-review
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TY - JOUR
T1 - Human chromosome 17 in essential hypertension
AU - Knight, Jo
AU - Munroe, P. B.
AU - Pembroke, J. C.
AU - Caulfield, M. J.
PY - 2003/3
Y1 - 2003/3
N2 - Hypertension affects up to 30% of the adult population in Western societies and is a major risk factor for kidney disease, stroke and coronary heart disease. It is a complex trait thought to be influenced by a number of genes and environmental factors, although the precise aetiology remains unknown at this time. A number of methods have been successfully used to identify mutations that cause Mendelian traits and these are now being applied to the investigation of complex diseases. This review summarises the data gathered, using such approaches, that suggest there is a gene or genes on chromosome 17 causing human essential hypertension. Studies in rodent models are discussed first, followed by studies of human hypertension that include the investigation of pseudohypoaldosteronism type II, a monogenic trait that manifests with hypertension alongside other phenotypic variables. In addition, candidate gene studies, genome screens and linkage studies based on comparative mapping are outlined. To date no gene has been identified on human chromosome 17 that influences blood pressure and causes human essential hypertension. However, results of ongoing fine mapping and candidate gene studies in both rodents and man are eagerly awaited.
AB - Hypertension affects up to 30% of the adult population in Western societies and is a major risk factor for kidney disease, stroke and coronary heart disease. It is a complex trait thought to be influenced by a number of genes and environmental factors, although the precise aetiology remains unknown at this time. A number of methods have been successfully used to identify mutations that cause Mendelian traits and these are now being applied to the investigation of complex diseases. This review summarises the data gathered, using such approaches, that suggest there is a gene or genes on chromosome 17 causing human essential hypertension. Studies in rodent models are discussed first, followed by studies of human hypertension that include the investigation of pseudohypoaldosteronism type II, a monogenic trait that manifests with hypertension alongside other phenotypic variables. In addition, candidate gene studies, genome screens and linkage studies based on comparative mapping are outlined. To date no gene has been identified on human chromosome 17 that influences blood pressure and causes human essential hypertension. However, results of ongoing fine mapping and candidate gene studies in both rodents and man are eagerly awaited.
KW - Animals
KW - Blood Pressure
KW - Chromosome Mapping
KW - Chromosomes, Human, Pair 17
KW - Disease Models, Animal
KW - Genetic Linkage
KW - Genetic Markers
KW - Humans
KW - Hypertension
KW - Mice
KW - Peptidyl-Dipeptidase A
KW - Phenotype
KW - Pseudohypoaldosteronism
KW - Quantitative Trait Loci
KW - Rats
KW - Rats, Inbred SHR
U2 - 10.1046/j.1469-1809.2003.t01-1-00002.x
DO - 10.1046/j.1469-1809.2003.t01-1-00002.x
M3 - Journal article
C2 - 12675695
VL - 67
SP - 193
EP - 206
JO - Annals of Human Genetics
JF - Annals of Human Genetics
SN - 0003-4800
IS - 2
ER -