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      Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants

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          Abstract

          Coronary artery disease (CAD) is the leading cause of death and disability worldwide, and its prevalence is expected to increase in the coming years. CAD events are caused by the interplay of genetic and environmental factors, the effects of which are mainly mediated through cardiovascular risk factors. The techniques used to study the genetic basis of these diseases have evolved from linkage studies to candidate gene studies and genome-wide association studies. Linkage studies have been able to identify genetic variants associated with monogenic diseases, whereas genome-wide association studies have been more successful in determining genetic variants associated with complex diseases. Currently, genome-wide association studies have identified approximately 40 loci that explain 6% of the heritability of CAD. The application of this knowledge to clinical practice is challenging, but can be achieved using various strategies, such as genetic variants to identify new therapeutic targets, personal genetic information to improve disease risk prediction, and pharmacogenomics. The main aim of this narrative review is to provide a general overview of our current understanding of the genetics of coronary artery disease and its potential clinical utility.

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          Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.

          By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases and 59,925 controls, we identified 12 new T2D association signals with combined P<5x10(-8). These include a second independent signal at the KCNQ1 locus; the first report, to our knowledge, of an X-chromosomal association (near DUSP9); and a further instance of overlap between loci implicated in monogenic and multifactorial forms of diabetes (at HNF1A). The identified loci affect both beta-cell function and insulin action, and, overall, T2D association signals show evidence of enrichment for genes involved in cell cycle regulation. We also show that a high proportion of T2D susceptibility loci harbor independent association signals influencing apparently unrelated complex traits.
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                Author and article information

                Journal
                Appl Clin Genet
                Appl Clin Genet
                The Application of Clinical Genetics
                The Application of Clinical Genetics
                Dove Medical Press
                1178-704X
                2014
                16 January 2014
                : 7
                : 15-32
                Affiliations
                Cardiovascular epidemiology and Genetics Research Group, Institut Hospital del Mar d’Investigacions Mèdiques, Barcelona, Spain
                Author notes
                Correspondence: Roberto Elosua Cardiovascular Epidemiology and Genetics Research Group, Institut Hospital del Mar d’Investigacions Mèdiques, Barcelona, Spain email relosua@ 123456imim.es
                Article
                tacg-7-015
                10.2147/TACG.S35301
                3920464
                24520200
                577f364b-e568-4006-ba6f-46c665b9c37d
                © 2014 Sayols-Baixeras et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License

                The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

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                Review

                coronary artery disease,pathogenesis,genetic risk factors,genetic variants

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