a Centre for Cardiovascular Genetics, BHF Laboratories, Institute of Cardiovascular Science , University College London , London , UK.
b MRC Integrative Epidemiology Unit, School of Social and Community Medicine , University of Bristol , Bristol , UK.
Expert Rev Mol Diagn. 2017 Oct;17(10):905-915. doi: 10.1080/14737159.2017.1368388. Epub 2017 Sep 4.
Genome-wide association meta-analysis have now identified more than 150 loci where common variants (SNPs) are significantly associated with coronary heart disease (CHD) and CHD end points. Areas covered: The authors review publications from their own laboratory and published recently where identified CHD risk SNPs are used in combination, and 'scaled' by their effect size, to create a 'weighted' Genetic risk Score (GRS), which, in combination with an individual's classical CHD risk factors, can be used to identify those at overall low, intermediate and high future risk. Those at highest risk can be offered life-style and therapeutic options to reduce their risk and those at intermediate levels can be monitored. Expert commentary: The authors discuss the selection of the best variants to be included in the GRS, and the potential utility of such scores in different clinical settings. The limitations of the current data sets and the way forward in the next 5 years is discussed.
全基因组关联荟萃分析现已确定了 150 多个与冠心病 (CHD) 和 CHD 终点显著相关的常见变异 (SNP) 位点。
作者回顾了他们自己实验室的出版物和最近发表的出版物，其中使用了确定的 CHD 风险 SNP 进行组合，并根据其效应大小进行“缩放”，以创建一个“加权”遗传风险评分 (GRS)，该评分与个体的经典 CHD 风险因素结合使用，可以识别整体低、中、高未来风险的人群。可以为处于最高风险的人群提供生活方式和治疗选择，以降低风险，为处于中间风险水平的人群提供监测。
作者讨论了选择最佳变体纳入 GRS 的问题，以及此类评分在不同临床环境中的潜在效用。还讨论了当前数据集的局限性以及未来 5 年内的发展方向。
