Article

Human chromosome 17 in essential hypertension.

Clinical Pharmacology, The William Harvey Research Institute Bart's and The London Queen Mary, University of London Charterhouse Square, UK.
Annals of Human Genetics (Impact Factor: 1.93). 04/2003; 67(Pt 2):193-206. DOI: 10.1046/j.1469-1809.2003.t01-1-00002.x
Source: PubMed

ABSTRACT 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.

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    ABSTRACT: Südameveresoonkonna haigusi (SVH) peetakse tänapäeva lääne ühiskonna üheks sagedasemaks enneaegse surma põhjustajaks. Vastuvõtlikust SV haiguste suhtes on sõltuv pärilikkusest kuid ka elustiilist ja keskkonnast tulenevatest teguritest. Olulist rolli mängivad see juures ülekaalulisus, vähene füüsiline aktiivsus, liigne soola- ja alkoholitarbimine ning suitsetamine. Perekondadel põhinevad ja kaksikute uuringud on näidanud, et SVH pärilik komponent võib olla väga varieeruv. Lisaks keskkonnast tingitud riskiteguritele on geneetilised uuringute tulemusena tuvastanud, et erinevate SVHte vormide kujunemiseni võivad viia mutatsioon(id), mis esinevad ühes geenis (üksiku geeni ehk monogeenne vorm) kui ka mitmed mutatsioonid erinevates geenides (multigeenne vorm) korraga. Levinumad on neist multigeensed vormid, mis teevad haiguse kujunemisel osalevate mutatsioonide leidmise protsessi keeruliseks ja aeganõudvaks tegevuseks. 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