The influence of ACE (I/D) polymorphism in cardiovascular disease

摘要: The renin-angiotensin system (RAS) is involved in maintenance of cardiovascular function and has been implicated coronary heart disease (CHD) type 2 diabetes (T2D). Pharmacological inhibition the RAS improves outcomes. Angiotensin Converting Enzyme (principal component RAS) levels are significantly associated with ACE(I/D) polymorphism. Large studies have demonstrated a mild effect this polymorphism on CHD risk. However presence diverse tissues diseases justify hypothesis that genetic polymorphisms encoding proteins 'modify' risk such context harmful stimuli or affect progression. This thesis therefore tested 'modifies' T2D, affects progression Hypertrophic Cardiomyopathy (HCM). Using study 532 myocardial infarction (MI) survivors 574 controls (HIFMECH), an interaction between ACE lipid MI Northern compared to Southern Europeans demonstrated: odds high ApoB D allele carriers was much greater North than South. In prospective cohort 3052 healthy men (NPHS2), systolic blood pressure (SBP) presented where were protected against at lower SBP, but higher SBP more susceptible. same study, variants modified T2D obese individuals, having substantially II homozygotes. From retrospective 541 patients HCM possible left ventricular remodelling demonstrated. Thus work offers strong evidence gene modifies known factors.