New hypertension gene found
An international team of researchers, led jointly by Dr Sandosh Padmanabhan and Professor Anna Dominiczak from the University of Glasgow, have identified a genetic variation in humans which is associated with a reduced risk of high blood pressure (hypertension) and heart disease. Working with researchers from the Istituto Auxologico Italiano of Milan the team hopes that the newly discovered variant will help identify possible targets for new drug therapies.
Hypertension is the leading contributor to global mortality, known to be caused by a combination of genetic and environmental factors. However, the genetic variations identified so far only explain 1-2% of the difference in blood pressure in the population, suggesting the presence of many more variations yet to be discovered.
Individuals carrying this variant were found to have 15% less strokes, myocardial infarctions and coronary deaths. This important discovery is the result of a large genetic study which involved 40,000 individuals from 8 European countries. While previous studies on high blood pressure have investigated individuals with a wide range of blood pressures, the researchers of Glasgow and Milan compared individuals with very high or with low blood pressures.
The new variant is located in the UMOD gene in chromosome 16; this gene expresses a renal protein excreted in the urine, which is called uromodulin. Researchers discovered that less uromodulin is excreted in urines of the individuals carrying the variant. Uromodulin is one of the major proteins in urine. Its functional role was until now largely unknown, but it now seems reasonable to suggest that it’s involved in sodium reabsorbtion in the kidney
Professor Dominiczak, Regius Professor of Medicine and Head of the College of Medical, Veterinary and Life Sciences concluded: ‘We need to carry out more studies to know just how important this UMOD gene and its protein are, but our findings seem to contribute strongly to the story of salt involvement in hypertension.’