Department of Vascular Medicine, Academic Medical Center Amsterdam, Amsterdam, The Netherlands.
Curr Atheroscler Rep. 2011 Jun;13(3):225-32. doi: 10.1007/s11883-011-0173-4.
Cardiovascular disease remains the major cause of worldwide morbidity and mortality. Its pathophysiology is complex and multifactorial. Because the phenotype of cardiovascular disease often shows a marked heritable pattern, it is likely that genetic factors play an important role. In recent years, large genome-wide association studies have been conducted to decipher the molecular mechanisms underlying this heritable and prevalent phenotype. The emphasis of this review is on the recently identified 17 susceptibility loci for coronary artery disease. Implications of their discovery for biology and clinical medicine are discussed. A description of the landscape of human genetics in the near future in the context of next-generation sequence technologies is provided at the conclusion of this review.
心血管疾病仍然是全球发病率和死亡率的主要原因。其病理生理学是复杂的和多因素的。由于心血管疾病的表型常常表现出明显的遗传性模式,因此遗传因素可能起着重要作用。近年来,进行了大规模的全基因组关联研究,以破译这种遗传性和普遍存在的表型的分子机制。本综述的重点是最近确定的 17 个冠心病易感性位点。讨论了它们的发现对生物学和临床医学的意义。在本综述的结尾,提供了在下一代测序技术背景下对人类遗传学的未来展望。