Linked Life Data

19340547

Source:http://linkedlifedata.com/resource/pubmed/id/19340547

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-4-2
pubmed:abstractText
Recent studies on the association between particular single nucleotide polymorphisms of serine-threonine kinase with no lysine (K) 4 gene (WNK4) and essential hypertension have yielded controversial results. Here, frequencies of Ala589Ser polymorphism within exon 8 of the WNK4 gene were assessed among 259 unrelated ethnic Chinese patients with essential hypertension and 235 strictly matched normotensive controls. All subjects were derived from a relatively isolated population identified in the Kerqin desert region in Zhangwu county of Liaoning, northeastern China, which features a dry climate and the people having a high dietary salt intake, in addition to a significantly higher prevalence (approximately 35%) of essential hypertension. Genotypes were verified with polymerase chain reaction-restriction fragment length polymorphism and confirmed by direct sequencing. Expression pattern and regulatory mechanisms of the WNK4 gene were also explored using Northern blotting and in vitro hormone stimulation assays. Strong associations between the Ala589Ser polymorphism and both raised systolic and diastolic blood pressures were identified. In addition to the kidneys, WNK4 gene expression was also found in many other organs. Several cis-acting elements had been discovered in the promoter region of the gene. As revealed by preliminary experiment, various hormones can down-regulate the expression of WNK4, among which glucocorticoid hormone seems to act in a dose-dependent manner. The WNK4 gene probably plays an important role in the pathogenesis of essential hypertension. As a missense mutation, the Ala589Ser polymorphism may bring changes to the enzyme's function(s), resulting in increased susceptibility to the disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1880-6562
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
59
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
81-6
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Association of Ala589Ser polymorphism of WNK4 gene with essential hypertension in a high-risk Chinese population.
pubmed:affiliation
Department of Medical Genetics, China Medical University, Shenyang, 110001, China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't