Insights into genetics of high blood pressure
September 2016: Understanding the impact of rare genetic variants on the causes of high blood pressure in the general population may lead to development of 'precision medicine'.
A recent Nature Genetics publication has highlighted the impact of rare genetic variants on the causes of high blood pressure (hypertension) in the general population. This collaborative study involves a large number of researchers from a cross-section of disciplines, including CGEM’s Professor David Porteous, Dr Riccardo Marioni and Dr Sarah Harris, and has provided new insights into the physiology and functional changes that accompany hypertension, indicating potential new targets for clinical intervention.
Like a lot of disease trait genetics, more is better, as in this case where exome chip data on ~350,000 individuals was used to identify 30 new loci associated with high blood pressure, adding to the 67 already known from genome-wide association studies (GWAS). It took the combined effort of 51 studies of which Generation Scotland, with 20,000 subjects, was one of the larger. By focusing on exome associated variants, the study pinpointed specific genes of interest directly. These were shown to be linked to distinct and overlapping components of blood pressure – hypertension, systolic, diastolic and pulse pressure. Unlike the findings to date by GWAS, some of these latest gene findings impart relatively high individual relative risks, bridging the gap between the rare subset of inherited (Mendelian) blood pressure disorders and the much more common, but diverse presentations seen daily in clinics. This study is an important step towards genetic stratification, a necessary first step toward precision medicine which can lead to tailoring medicine and treatments to each individual.