Variant for reduced hypertension discovered
21 Dec 2010 by Evoluted New Media
A genetic variation that is associated with reduced hypertension and a 7.7% reduction in cardiovascular disease has been uncovered by scientists in Glasgow and Milan – and they say there could be many more
A genetic variation that is associated with reduced hypertension and a 7.7% reduction in cardiovascular disease has been uncovered by scientists in Glasgow and Milan – and they say there could be many more
Researchers undertaking a genome wide association study uncovered a genetic variation that is associated with a reduction of strokes, myocardial infarctions and coronary deaths. The variations identified so far only explain 1-2% of the difference in blood pressure in the population, suggesting there could be many more waiting to be discovered.
More than 500,000 single nucleotide polymorphisms (SNPs) across the entire genome of 39,706 individuals with very high or low blood pressures – 21,466 with hypertension and 18,240 with normotension – were analysed.
Researchers found a genetic variation located on the UMOD gene in chromosome 16 – a gene that expresses a renal protein excreted in urine – uromodulin. They found that less uromodulin is excreted in the urine of those carrying the variant.
“Our finding that variation in uromodulin promoter gene causing less uromodulin to be released, is associated with lower blood pressure and less risk of cardiovascular disease suggests that uromodulin may be related to blood pressure regulation,” said professor Alberto Zanchetti, scientific director of the Instituto Auxologico Italiano in Milan.
“Uromodulin is exclusively produced in a specific part of the kidney, the thick portion of the ascending limb of Henle, which is known to be involved in sodium reabsorption,” he continued, “It appears reasonable to suggest uromodulin participates in blood pressure regulation and disregulation through a sodium linked mechanism.”
Anna Dominiczak, regius professor of medicine at Glasgow said: “We believe the newly discovered variant gives doctors a valuable insight into the mechanism of high blood pressure and may help identify possible targets for new drug therapies.”
They scientists intend to carry out further study to understand how important the UMOD gene and uromodulin are, but say their findings contribute strongly to the role of salt in hypertension.
