Manace Leslie Cole, Godiwala Tapan N, Babyatsky Mark W
Department of Genetics, Kaiser Oakland Medical Center, Oakland, CA, USA.
Mt Sinai J Med. 2009 Dec;76(6):613-23. doi: 10.1002/msj.20151.
As the leading cause of death worldwide and a major cause of disability, cardiovascular disease remains a central focus of basic research, pharmacological treatment, surgical interventions, and long-term care. Inherited, monogenic syndromes have provided insight into pathophysiological mechanisms across the range of cardiovascular diseases. With the advent of post-Human Genome Project resources and technology, there has been a flood of research aimed at genome-wide predisposition markers, pharmacogenetics, and genomic signatures in complex cardiovascular disorders. Genomic research has both further elucidated the impact of genes previously identified in cardiovascular disease development and progression and discovered genomic regions as yet unknown to be associated with cardiovascular outcomes. The promise of personalized medicine lies in combining this genetic information with other biomarkers to tailor preventive and therapeutic strategies to individual patients for effective management, fewer adverse events, and preventive care.
作为全球主要死因和致残的主要原因,心血管疾病仍然是基础研究、药物治疗、外科手术干预及长期护理的核心焦点。遗传性单基因综合征为深入了解各类心血管疾病的病理生理机制提供了线索。随着人类基因组计划之后相关资源和技术的出现,针对复杂心血管疾病的全基因组易感性标记、药物遗传学及基因组特征的研究大量涌现。基因组研究不仅进一步阐明了先前已确定的基因在心血管疾病发生和发展中的作用,还发现了与心血管结局相关的未知基因组区域。个性化医疗的前景在于将这些遗传信息与其他生物标志物相结合,为个体患者量身定制预防和治疗策略,以实现有效管理、减少不良事件及提供预防性护理。