01 Feb Over 100 Genetic Signals Influence Blood Pressure
MedicalResearch.com Interview with:
Helen R Warren PhD
Analysis, Statistics, Genetic Epidemiology
Queen Mary, University of London
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: This study analysed data from UK Biobank, which is a large cohort including over 500,000 male and female participants from across the UK, aged 40-69 years. We performed a genetic association study for blood pressure, which analysed ~140,000 individuals of European ancestry (as currently interim genetic data is only available for ~150,000 participants).
Our study identified 107 genetic regions associated with blood pressure, which had not been previously reported at the time of our analysis. All our new findings were robustly validated within independent replication data resources, comprising a large, total sample size of up to 420,000 individuals.
MedicalResearch.com: What should readers take away from your report?
Response: Hypertension (high blood pressure) is a major risk factor for cardiovascular disease. Elevated blood pressure is highly heritable, and can be caused by both genetic and lifestyle factors. The discovery of over 100 genetic signals influencing blood pressure is a major advance in understanding more about the genetic architecture of blood pressure. Further analyses, bioinformatics investigations and laboratory experiments we conducted have also provided additional biological insight into blood pressure regulation, and identified potential new drug targets for the treatment of hypertension.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Response: We performed genetic risk score analyses, which show that the combination of all genetic variants associated with blood pressure altogether increases systolic blood pressure by 10 mm Hg in adults over fifty years old, and increases the risk of coronary heart disease and stroke. Given this substantial effect of combined genetic risk on blood pressure by middle-age, we believe that the possibility of a “precision medicine” approach for adopting early lifestyle intervention amongst individuals at high genetic risk, to offset the impact of blood pressure raising genetic variants on future risk of cardiovascular disease, along with population-wide measures to lower blood pressure, warrants further study.
In general, this analysis also shows the benefits of using very large studies with high quality data, such as UK Biobank, to enable the discovery of many new genetic signals associated with complex disease traits, such as blood pressure. We believe the advantages are three-fold:
(i) very large sample sizes,
(ii) homogeneous data from a large, single cohort, with a standardised protocol, where all participants have had blood pressure measured in exactly the same way,
(iii) high quality genetic data with dense coverage of variants across the genome, arising from advanced technologies, yielding millions of genetic variants for analysis. These attributes are driving the design of future studies.
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Mark Caulfield et al. Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk: The UK Biobank Cardio-metabolic Traits Consortium Blood Pressure Working Group. Nature Genetics, January 2017 DOI: 10.1038/ng.3768
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