Evidence map›Paper›PMID 27780847›Full record

Observational studyCirculation. Cardiovascular genetics2016

Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data.

Jonathan D Mosley, Sara L van Driest, Quinn S Wells, Christian M Shaffer, Todd L Edwards, Lisa Bastarache, Catherine A McCarty, Will Thompson, Christopher G Chute, Gail P Jarvik and 9 more

Registry-linked trialAbstract readComparative StudyMulticenter StudyObservational Study
In one paragraph

Observational study in Circulation. Cardiovascular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03394859 (Electronic Medical Records and Genomics), which is not on this map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03394859 completednot on this map

Electronic Medical Records and Genomics (eMERGE) Phase III

TypeobservationalSponsorVanderbilt University Medical CenterRan2015 to 2020Enrolled25,380ConditionsCardiac Disease, Cancer, Hypercholesterolemia, Diabetes
3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors.

Jonathan D MosleyFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI. jonathan.d.mosley@vanderbilt.edu.
Sara L van DriestFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Quinn S WellsFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Christian M ShafferFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Todd L EdwardsFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Lisa BastaracheFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Catherine A McCartyFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Will ThompsonFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Christopher G ChuteFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Gail P JarvikFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
David R CrosslinFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Eric B LarsonFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Iftikhar J KulloFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Jennifer A PachecoFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Peggy L PeissigFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Murray H BrilliantFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
James G LinnemanFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Josh C DennyFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.
Dan M RodenFrom the Department of Medicine (J.D.M., S.L.v.D., Q.S.W., C.M.S., J.C.D., D.M.R.), Department of Pediatrics (S.L.v.D.), Vanderbilt Epidemiology Center (T.L.E.), Biomedical Informatics (L.B., J.C.D., D.M.R.), and Department of Pharmacology (D.M.R.), Vanderbilt University, Nashville, TN; Essentia Institute of Rural Health, Duluth, MN (C.A.M.); Center for Biomedical Research Informatics, North Shore University Health System, Evanston, IL (W.T.); Department of Health Policy and Management Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD (C.G.C.); Departments of Medicine (Medical Genetics) and Genome Sciences (G.P.J.) and Departments of Biomedical Informatics and Medical Education (D.R.C.), University of Washington, Seattle; Group Health Research Institute, Seattle, WA (E.B.L.); Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (I.J.K.); Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (J.A.P.); and Biomedical Informatics Research Center (P.L.P., J.G.L.) and Center for Human Genetics (M.H.B.), Marshfield Clinic Research Foundation, WI.

Funding

The Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
A Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Understanding and preventing HLA-associated drug reactionsP50GM115305 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI PHILLIPS, ELIZABETH, RODEN, DAN M · 2015 to 2019
$13.0M
Vanderbilt Genome-Electronic Records ProjectU01HG004603 · NHGRI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2007 to 2011
$7.3M
The Electronic Medical Records and Genomics (eMERGE) Network Phase III Coordinating Center (U01)U01HG008701 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI PETERSON, JOSEPH F. · 2015 to 2019
$7.1M
From GWAS to PheWAS: Scanning the EMR Phenome for Gene-disease AssociationsR01LM010685 · NLM · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BASTARACHE, LISA · 2011 to 2022
$6.3M
VGER, the Vanderbilt Genome-Electronic Records ProjectU01HG008672 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C., RODEN, DAN M · 2015 to 2019
$5.1M
Development and Use of Network Infrastructure for High-Throughput GWA StudiesU01HG004610 · NHGRI · KAISER FOUNDATION HEALTH PLAN OF WASHINGTON · PI LARSON, ERIC B · 2007 to 2010
$4.2M
Genomic Medicine at Northwestern: Discovery and ImplementationU01HG008673 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CHISHOLM, REX L, SMITH, MAUREEN E · 2015 to 2019
$4.1M
Vanderbilt Genome Electronic Records ProjectU01HG006378 · NHGRI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2011 to 2014
$4.0M
American Heart Association-American Stroke Association 16FTF30130005NCATS NIH HHS UL1 TR000445NHGRI NIH HHS U01 HG004402NHGRI NIH HHS U01 HG004424NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG004599NHGRI NIH HHS U01 HG004603NHGRI NIH HHS U01 HG004608NHGRI NIH HHS U01 HG004609NHGRI NIH HHS U01 HG004610NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008672NHGRI NIH HHS U01 HG008673NHGRI NIH HHS U01 HG008701NHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNIGMS NIH HHS P50 GM115305NLM NIH HHS R01 LM010685
6 · The paper itself

Abstract

backgroundContinued reductions in morbidity and mortality attributable to ischemic heart disease (IHD) require an understanding of the changing epidemiology of this disease. We hypothesized that we could use genetic correlations, which quantify the shared genetic architectures of phenotype pairs and extant risk factors from a historical prospective study to define the risk profile of a contemporary IHD phenotype. METHODS AND

resultsWe used 37 phenotypes measured in the ARIC study (Atherosclerosis Risk in Communities; n=7716, European ancestry subjects) and clinical diagnoses from an electronic health record (EHR) data set (n=19 093). All subjects had genome-wide single-nucleotide polymorphism genotyping. We measured pairwise genetic correlations (rG) between the ARIC and EHR phenotypes using linear mixed models. The genetic correlation estimates between the ARIC risk factors and the EHR IHD were modestly linearly correlated with hazards ratio estimates for incident IHD in ARIC (Pearson correlation [r]=0.62), indicating that the 2 IHD phenotypes had differing risk profiles. For comparison, this correlation was 0.80 when comparing EHR and ARIC type 2 diabetes mellitus phenotypes. The EHR IHD phenotype was most strongly correlated with ARIC metabolic phenotypes, including total:high-density lipoprotein cholesterol ratio (rG=-0.44, P=0.005), high-density lipoprotein (rG=-0.48, P=0.005), systolic blood pressure (rG=0.44, P=0.02), and triglycerides (rG=0.38, P=0.02). EHR phenotypes related to type 2 diabetes mellitus, atherosclerotic, and hypertensive diseases were also genetically correlated with these ARIC risk factors.

conclusionsThe EHR IHD risk profile differed from ARIC and indicates that treatment and prevention efforts in this population should target hypertensive and metabolic disease.

Indexed as

Polymorphism, Single NucleotideAgedAged, 80 and overAtherosclerosisBlood PressureCase-Control StudiesChi-Square DistributionCross-Sectional StudiesDiabetes Mellitus, Type 2Electronic Health RecordsFemaleGenetic MarkersGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansHypertensionGenetic MarkersLipidsatherosclerosisblood pressurecoronary artery diseaserisk factorstriglycerides

Identifiers

PMID27780847
PMCPMC5177499

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