title: From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease.
abstract: Genome-wide association studies have provided a rich collection of ≈ 58 coronary artery disease (CAD) loci that suggest the existence of previously unsuspected new biology relevant to atherosclerosis. However, these studies only identify genomic loci associated with CAD, and many questions remain even after a genomic locus is definitively implicated, including the nature of the causal variant(s) and the causal gene(s), as well as the directionality of effect. There are several tools that can be used for investigation of the functional genomics of these loci, and progress has been made on a limited number of novel CAD loci. New biology regarding atherosclerosis and CAD will be learned through the functional genomics of these loci, and the hope is that at least some of these new pathways relevant to CAD pathogenesis will yield new therapeutic targets for the prevention and treatment of CAD.
authors.affiliation: From the Division of Translational Medicine and Human Genetics, Department of Medicine (S.T.N., R.C.B., D.J.R.), Penn Cardiovascular Institute, Department of Medicine (H.Z., M.P.R., D.J.R.), Department of Genetics (N.J.H., D.J.R.), and Department of Biostatistics and Epidemiology (D.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
authors.forename: Sylvia T
authors.initials: ST
authors.lastname: Nurnberg
authors.affiliation: From the Division of Translational Medicine and Human Genetics, Department of Medicine (S.T.N., R.C.B., D.J.R.), Penn Cardiovascular Institute, Department of Medicine (H.Z., M.P.R., D.J.R.), Department of Genetics (N.J.H., D.J.R.), and Department of Biostatistics and Epidemiology (D.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
authors.forename: Hanrui
authors.initials: H
authors.lastname: Zhang
authors.affiliation: From the Division of Translational Medicine and Human Genetics, Department of Medicine (S.T.N., R.C.B., D.J.R.), Penn Cardiovascular Institute, Department of Medicine (H.Z., M.P.R., D.J.R.), Department of Genetics (N.J.H., D.J.R.), and Department of Biostatistics and Epidemiology (D.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Hand
authors.affiliation: From the Division of Translational Medicine and Human Genetics, Department of Medicine (S.T.N., R.C.B., D.J.R.), Penn Cardiovascular Institute, Department of Medicine (H.Z., M.P.R., D.J.R.), Department of Genetics (N.J.H., D.J.R.), and Department of Biostatistics and Epidemiology (D.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
authors.forename: Robert C
authors.initials: RC
authors.lastname: Bauer
authors.affiliation: From the Division of Translational Medicine and Human Genetics, Department of Medicine (S.T.N., R.C.B., D.J.R.), Penn Cardiovascular Institute, Department of Medicine (H.Z., M.P.R., D.J.R.), Department of Genetics (N.J.H., D.J.R.), and Department of Biostatistics and Epidemiology (D.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
authors.forename: Danish
authors.initials: D
authors.lastname: Saleheen
authors.affiliation: From the Division of Translational Medicine and Human Genetics, Department of Medicine (S.T.N., R.C.B., D.J.R.), Penn Cardiovascular Institute, Department of Medicine (H.Z., M.P.R., D.J.R.), Department of Genetics (N.J.H., D.J.R.), and Department of Biostatistics and Epidemiology (D.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia. mpr2144@cumc.columbia.edu rader@upenn.edu.
authors.forename: Muredach P
authors.initials: MP
authors.lastname: Reilly
authors.affiliation: From the Division of Translational Medicine and Human Genetics, Department of Medicine (S.T.N., R.C.B., D.J.R.), Penn Cardiovascular Institute, Department of Medicine (H.Z., M.P.R., D.J.R.), Department of Genetics (N.J.H., D.J.R.), and Department of Biostatistics and Epidemiology (D.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia. mpr2144@cumc.columbia.edu rader@upenn.edu.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Rader
mesh_terms: D000818:Animals; D003324:Coronary Artery Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D056426:Genetic Loci; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D010641:Phenotype; D011379:Prognosis; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D005819:Genetic Markers
keywords: atherosclerosis; coronary artery disease; functional; genome-wide; genomics