Cardiovascular Genetics and Biomarkers

Theme Leads: Professor Nilesh Samani and Professor Alison Goodall

We are one of the leading cardiovascular genetics research groups in the UK and internationally. Through local studies and national/international collaborations we have made significant contributions towards understanding the genetic 'architecture' of coronary artery disease (CAD) and related disorders including hypertension. Within the field of congenital heart disease, we have collaborated in a number of major multi-centre genomic studies looking at the causes underlying causes of these disorders in collaboration with colleagues in Grown Up Congenital Heart Disease (GUCH).

Using a genome-wide association (GWA) approach, we have contributed to the discovery and validation of nine novel loci that affect risk of CAD and/or premature myocardial infarction (MI). In addition, by correlating platelet gene expression profiles, genotype and platelet reactivity, we have recently identified COMMD7 (a repressor of NFkB) as a novel platelet protein, genetic variants of which affect platelet reactivity and risk of MI. We are part of the GlobalBPgen Consortium which has recently identified seven novel loci that affect blood pressure and risk of hypertension.

We are now extending our GWA studies to other ethnic groups (South Asians), complementing GWA analysis with large-scale gene-focused studies using the 50K IBC Chip, and exploring the role of other types of genetic variation such as copy number variation. We are also extending our studies to other cardiovascular pathologies (and have already shown that the locus on 9p21 also affects risk of abdominal aortic aneurysms).

Key Research Projects (Recent and On-going)

Aortic Stenosis (GeneCAST)

Bicuspid Aortic Valve Genetic Research (BRAVE)

BRICCS - Biomedical Research Informatics Centre for Cardiovascular Science

DHF - Diastolic Heart Failure

GENVASC - Genetics and the Vascular Health Check

GRAPHIC 2 - Genetic Regulation of Arterial Pressure In Humans in the Community 2

 SCAD - Spontaneous Coronary Artery Dissection

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Athena SWAN Silver Award