Much of the progress in cardiovascular genetics in 2016 has been driven by next-generation sequencing studies, and the clinical utility of knowing an individual's genotype for predicting their risk of cardiovascular disease is gaining credibility, both for monogenic and polygenic disorders. Additionally, phenotype data are increasingly abundant, although databases linking genotype with clinically relevant phenotypes require optimization.
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References
Benn, M. et al. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur. Heart J. 37, 1384–1394 (2016).
Wald, D. et al. Child-parent familial hypercholesterolemia screening in primary care. N. Engl. J. Med. 375, 1628–1637 (2016).
Talmud, P. J. et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 381, 1293–1301 (2013).
Khera, A. V. et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J. Am. Coll. Cardiol. 67, 2578–2589 (2016).
Schafer, S. et al. Titin-truncating variants affect heart function in disease cohorts and the general population. Nat. Genet. http://dx.doi.org/10.1038/ng.3719 (2016).
Khera, A. V. et al. Genetic risk, adherence to a healthy lifestyle, and coronary disease. N. Engl. J. Med. http://dx.doi.org/10.1056/NEJMoa1605086 (2016).
Swerdlow, D. I. et al. HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials. Lancet 385, 351–361 (2015).
White, J. et al. Association of lipid fractions with risks for coronary artery disease and diabetes. JAMA Cardiol. 1, 692–699 (2016).
Stitziel, N. O. et al. Inactivating mutations in NPC1L1 and protection from coronary heart disease. N. Engl. J. Med. 371, 2072–2082 (2014).
Schmidt, A. F. et al. PCSK9 genetic variants and risk of type 2 diabetes: a Mendelian randomisation study. Lancet Diabetes Endocrinol. http://dx.doi.org/10.1016/S2213-8587(16)30396-5 (2016).
Acknowledgements
We thank Michael V. Holmes (Clinical Trial Service Unit and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health, University of Oxford, UK) for contributions to the drafting of this article. D.I.S. is supported by a National Institute for Health Research Academic Clinical Fellowship. S.E.H. is supported by the National Institute for Health Research, University College London and Hospitals Biomedical Research Centre, and by the British Heart Foundation (PG08/008).
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D.I.S. has been a consultant to Pfizer. S.E.H. declares no competing interests.
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Swerdlow, D., Humphries, S. Common and rare genetic variants and risk of CHD. Nat Rev Cardiol 14, 73–74 (2017). https://doi.org/10.1038/nrcardio.2016.209
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DOI: https://doi.org/10.1038/nrcardio.2016.209
