How close are we to implementing a genetic risk score for coronary heart disease?

Katherine Beaney, Fotios Drenos, Steve E Humphries

Research output: Contribution to journalArticle (Academic Journal)peer-review

6 Citations (Scopus)


INTRODUCTION: 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.

Original languageEnglish
Pages (from-to)905-915
Number of pages11
JournalExpert Review of Molecular Diagnostics
Issue number10
Early online date4 Sep 2017
Publication statusPublished - Oct 2017


  • Journal Article


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