Current Pharmacogenomics and Personalized Medicine (Formerly Current Pharmacogenomics) - Volume 6, Issue 3, 2008

The candidate gene approach to pharmacogenetics is hypothesis driven, and anchored in biological plausibility. Whole genome scanning is hypothesis generating, and it may lead to new biology. While both approaches are important, the scientific community is rapidly reallocating resources toward the latter. We propose a step-wise approach to largescale pharmacogenetic association studies that begins with candi Read More

Genetic variation in drug targets (e.g. receptors) can have pronounced effects on clinical responses to endogenous and exogenous agonists. Polymorphisms in the gene encoding the β2-adrenergic receptor (β2-AR) have been associated with altered expression, down-regulation, and altered cell signaling in vitro. Because β2-ARs play a crucial role in the regulation of the cardiovascular system, the functional importanc Read More

Blood platelets are the primary defence mechanism involved in physiological haemostasis. Their disorders constitute a crucial risk factor in arterial thrombosis. As arterial thrombi are predominantly composed of platelet aggregates formed under conditions of elevated shear stress at sites of atherosclerotic vascular injury, prevention of arterial thrombosis can be considered the main target of antiplatelet therapy. However, a l Read More

The sudden unexplained death syndrome, a tragic and devastating event, is often the result of cardiac arrhythmias associated with defects in ion channels. Autopsies are unrevealing due to the absence of an obvious cardiac pathology in these disorders. Substantial efforts have been devoted to identify genetic variations known to cause long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tac Read More

The inflammatory bowel diseases, Crohn's disease and ulcerative colitis, are common causes of significant morbidity, especially in young people. Current knowledge of aetiology is incomplete, but increasingly the evidence points towards a combination of appropriate environmental triggers in a genetically susceptible individual. Therapeutic options include 5-aminosalicylates, corticosteroids and immunosuppressants such as az Read More

An abdominal aortic aneurysm (AAA) is usually asymptomatic until the catastrophic event of rupture. Ruptured aneurysms cause ∼5000 deaths each year in the UK. A recent randomized control led trial showed the efficacy of screening for AAA. If a screening programme is implemented, there will be an increase in the detection of small AAAs. AAAs are normally not surgically repaired until their diameter exceeds 5.5cm. A Read More