Roddy Walsh, Sean J Jurgens, Jeanette Erdmann, Connie R Bezzina
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Genome-wide association studies of cardiovascular disease.
Genome-wide association studies (GWAS) aim to identify common genetic variants that are associated with traits and diseases. Since 2005, more than 5,000 GWAS have been published for almost as many traits. These studies have offered insights into the loci and genes underlying phenotypic traits, have highlighted genetic correlations across traits and diseases, and are beginning to demonstrate clinical utility by identifying individuals at increased risk for common diseases. GWAS have been widely utilized across cardiovascular diseases and associated phenotypic traits, with insights facilitated by multicenter registry studies and large biobank data sets. In this review, we describe how GWAS have informed the genetic architecture of cardiovascular diseases and the insights they have provided into disease pathophysiology, using archetypal conditions for both common and rare diseases. We also describe how biobank data sets can complement disease-specific studies, particularly for rarer cardiovascular diseases, and how findings from GWAS have the potential to impact on clinical care. Finally, we discuss the outstanding challenges facing research in this field and how they can be addressed.
期刊介绍:
Physiological Reviews is a highly regarded journal that covers timely issues in physiological and biomedical sciences. It is targeted towards physiologists, neuroscientists, cell biologists, biophysicists, and clinicians with a special interest in pathophysiology. The journal has an ISSN of 0031-9333 for print and 1522-1210 for online versions. It has a unique publishing frequency where articles are published individually, but regular quarterly issues are also released in January, April, July, and October. The articles in this journal provide state-of-the-art and comprehensive coverage of various topics. They are valuable for teaching and research purposes as they offer interesting and clearly written updates on important new developments. Physiological Reviews holds a prominent position in the scientific community and consistently ranks as the most impactful journal in the field of physiology.