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Approved research

Epigenomics-mediated blood pressure and QT GWAS

Principal Investigator: Professor Aravinda Chakravarti
Approved Research ID: 34201
Approval date: May 8th 2019

Lay summary

Genome-wide association studies (GWAS) correlate DNA sequence variants to clinical observations (e.g. blood pressure (BP) levels or ECG parameters) to identify the genes affecting these processes. Both of these phenotypes affect cardiovascular diseases and a better understanding through genetics can help patients. Hypertension and conduction disorders are account for a large share of all cardiovascular morbidity and mortality and are of great importance for public health. However, despite having mapped the locations of >250 genetic markers in total, both risk factors are incompletely understood at the level of individual genes. This study proposes using epigenetic observations to unravel the genetic etiology of these medical traits. We aim to use the data from the UK Biobank to help identify the specific organ that contribute to these disorders by using a new type of GWAS centered on pre-identified functional elements of the genome. The investigators will obtain genotypes (measured genetic variants), blood pressure and EKG measurements, and related phenotypes for statistical analysis from participants in the UK Biobank. The functional maps of the genome are being constructed from publicly and newly generated epigenetics data. The new analyses we will conduct will arise from these combined resources to identify specific genes involved in hypertension and conduction disorders. All UKB participants (~500,000) will be included in this analysis, which is expected to take three years to complete.