Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085580 (essential hypertension)
 14,686 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A polymorphism in intron 10 of the serine-threonine kinase with no lysine (K) 4 gene WNK4 (G-->A, base 1156666 on chromosome 17) has recently been associated with essential hypertension in a white American population. We have attempted to replicate this finding in a well characterized cohort of 184 unrelated hypertensive Australians of British extraction in which biological power was enhanced by them each having 2 hypertensive parents. Controls were 219 normotensive ethnically matched subjects whose parents were both normotensive. Genotyping was performed using the homogeneous MassEXTEND Assay. This showed a frequency of 0.10 for the minor allele in each group (P=0.88). Moreover, blood pressure, body mass index, sex, and plasma lipid levels were similar across genotypes. In conclusion, our study provides no support for an association of the intron 10 variant of WNK4 with essential hypertension in the Anglo-Australian population studied.
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PMID:WNK4 intron 10 polymorphism is not associated with hypertension. 1496 40

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.
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PMID:Association of Ala589Ser polymorphism of WNK4 gene with essential hypertension in a high-risk Chinese population. 1934 May 47