Swerdlow Daniel I, Hingorani Aroon D, Humphries Steve E
Institute of Cardiovascular Science, University College London, 222 Euston Road, London, NW1 2DA, UK,
Curr Cardiol Rep. 2015 May;17(5):33. doi: 10.1007/s11886-015-0584-x.
Cardiovascular disease encompasses several diverse pathological states that place a heavy burden on individual and population health. The aetiological basis of many cardiovascular disorders is not fully understood. Growing knowledge of the genetic architecture underlying coronary heart disease, stroke, cardiac arrhythmias and peripheral vascular disease has confirmed some suspected causal pathways in these conditions but also uncovered many previously unknown mechanisms. Here, we consider the contribution of genetics to the understanding of cardiovascular disease risk. We evaluate the utility and relevance of findings from genome-wide association studies and explore the role that Mendelian randomisation has to play in exploiting these. Mendelian randomisation permits robust causal inference in an area of research where this has been hampered by bias and confounding in observational studies. In doing so, it provides evidence for causal processes in cardiovascular disease that could represent novel targets for much-needed new drugs for disease prevention and treatment.
心血管疾病涵盖多种不同的病理状态，给个人和人群健康带来沉重负担。许多心血管疾病的病因基础尚未完全明确。对冠心病、中风、心律失常和外周血管疾病潜在遗传结构的认识不断增加，证实了这些疾病中一些可疑的因果途径，但也发现了许多以前未知的机制。在此，我们探讨遗传学在理解心血管疾病风险方面的作用。我们评估全基因组关联研究结果的实用性和相关性，并探讨孟德尔随机化在利用这些结果方面所起的作用。孟德尔随机化允许在一个因观察性研究中的偏差和混杂因素而受阻的研究领域进行有力的因果推断。这样做，它为心血管疾病的因果过程提供了证据，这些过程可能代表了急需的预防和治疗疾病新药的新靶点。
