Genotype-phenotype correlations in human cardiovascular diseases: focus on hypertension and diabetes / Nur Hazirah Mohamed Hisham

Background and significance: Cardiovascular disease (CVD) is a multifactorial disorder resulting from both genetic and environment factors. Although there are many known environmental factors that contribute to CVD, the genetic underpinnings of CVD is less understood; and this is likely due to the complex relationship. With improvements in genetic technology, analysing the genetic underpinnings of CVD has become faster and less expensive. In this project, we evaluated the relationship between genetic variants of the endothelin receptor type A (EDNRA) gene and transcription factor 7-like 2 (TCF7L2) gene with hypertension and diabetes; two pathophysiological states that are highly associated with CVD. These genes may serve as markers for CVD. Methods: Using a candidate gene approach, we evaluated the relationship between genetic variants and distinct CVD phenotypes using the HyperP A TH cohort, a cohort consisting mostly of Caucasian individuals with mild hypertension, with or without diabetes. 683 and 344 individuals were studied for EDNRA and TCF7L2 project respectively. They completed two controlled dietary phases: high salt and low salt diet.