Poster Presentation Australian Society for Medical Research Annual Scientific Meeting 2016

Investigation of Cardiovascular Disease Susceptibility Markers in an Australian Hypertensive-Normotensive Population (#102)

Seyyed R Pishva 1 2 , Heidi G Sutherland 1 , Larisa M Haupt 1 , Lyn R Griffiths 1
  1. Genomics Research Centre,Chronic Disease and Aging Theme,, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology, Brisbane,, QLD, Australia
  2. QUT, Kelvin Grove, QLD, Australia

Introduction: Cardiovascular disease (CVD) is among the leading causes of ill-health and mortality worldwide. According to the World Health Organisation (WHO), 17.3 million deaths reported throughout the world in 2012, representing 31% of all global deaths were directly caused as a result of CVD. Many environmental and genetic factors influence risk of CVD development including use of tobacco products and lack of physical activity, together with unhealthy diet practices, obesity, and dyslipidemia. Other risk factors include hypertension and diabetes mellitus together with metabolic syndrome. Having two of these risk factors in combination with a positive family history significantly increases an individual’s risk of CVD and related complications of ill-health and death.


Methods: A genetic replication study on an Australian hypertensive-normotensive case-control population for candidate markers, has been used to validate findings from a hypertension association study in the Norfolk Island (NI) genetic isolate population. Genotyping was performed using the Agena MassArray platform. In addition we aim to identify new susceptibility variants involved in CVD risk through technologies available in the Genomics Research Centre (GRC) including next generation sequencing, methylation analysis and gene expression analysis. Validation of genetic associations is a cornerstone for the confirmation of credibility of results.


Expected results: Preliminary analysis is promising and shows significant association between 11 genes on 9 chromosomes with hypertension and blood pressure components (systolic blood pressure/diastolic blood pressure). We also find new gender specific variants associated with blood pressure components and hypertension in the genetic isolate of Norfolk Island as well as common mainstream cohorts.


Conclusions: Earlier CVD genetic studies have discovered factors contributing to CVD pathophysiology and have improved our knowledge of CVD.  This study aims to identify new markers using the NI population isolate and validate these findings in an Australian hypertensive case-control population.