Association between diastolic blood pressure and variants of the endothelin-1 and endothelin-2 genes.
The genes for endothelin (ET) and their receptors are candidates for essential hypertension. Those for ET-1, ET-2 and the ET(A) receptor were selected for mutation scanning, and associated studies comparing untreated hypertensive patients and matched controls. A number of silent polymorphisms were found, resulting from a single nucleotide insertion or a single nucleotide substitution. There were no significant differences in the frequency of any one of these between the two groups. However, for ET-1 and ET-2 there were significant differences in the quantitative measurements of blood pressure and the number of variant alleles. The variants which we have found are likely to be in linkage disequilibrium with so far undiscovered variants in the regulatory regions of the genes.
Brown
M J
MJ
Clinical Pharmacology Unit, University of Cambridge, Centre for Clinical Investigation (ACCI), UK. mjbrown@cai.cam.ac.uk
Sharma
P
P
Stevens
P A
PA
D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D000483:Alleles; D001794:Blood Pressure / Q000502:physiology*; D019332:Endothelin-1 / Q000235:genetics*; D019333:Endothelin-2 / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic; D017466:Receptors, Endothelin / Q000235:genetics*
D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D019332:Endothelin-1; D019333:Endothelin-2; D017466:Receptors, Endothelin