ArticleNPJ genomic medicine2019
A phenome-wide association study to discover pleiotropic effects of
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In one paragraph
Article in NPJ genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 7% of its field
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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.Human molecular genetics · 2022Pooled it
- Assessing long-term pleiotropic effects of potential novel triglyceride-lowering medications using variants identified by Mendelian randomization.medRxiv : the preprint server for health sciences · 2025Article
- Advances in targeting LDL cholesterol: PCSK9 inhibitors and beyond.American journal of preventive cardiology · 2024Article
- Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study.Human genomics · 2024Article
- Developing and evaluating pediatric phecodes (Peds-Phecodes) for high-throughput phenotyping using electronic health records.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Genetically instrumented LDL-cholesterol lowering and multiple disease outcomes: A Mendelian randomization phenome-wide association study in the UK Biobank.British journal of clinical pharmacology · 2023Article
- Editorial: Clinical implementation of genetic scores in cardiovascular medicine.Frontiers in cardiovascular medicine · 2023Article
- Medication history-wide association studies for pharmacovigilance of pregnant patients.Communications medicine · 2022Article
- Multi-omics approaches for revealing the complexity of cardiovascular disease.Briefings in bioinformatics · 2021Review
- Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry.Circulation. Genomic and precision medicine · 2021Article
- Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS.Annual review of biomedical data science · 2021Review
- Proprotein Convertase Subtilisin Kexin Type 9 Inhibitors Reduce Platelet Activation Modulating ox-LDL Pathways.International journal of molecular sciences · 2021Article
- A Western-style diet interacts with genetic variants of the LDL receptor to hyper-LDL cholesterolemia in Korean adults.Public health nutrition · 2021Article
- Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study.PLoS genetics · 2021Article
- A Phenome-Wide Analysis of Healthcare Costs Associated with Inflammatory Bowel Diseases.Digestive diseases and sciences · 2021Article
- Using the electronic health record for genomics research.Current opinion in lipidology · 2020Review
- Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.Frontiers in neuroscience · 2020Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 14 institutions in 1 country.
Maya S Safarova *1Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55905 USA.
Benjamin A Satterfield *1Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55905 USA.
Xiao Fan1Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55905 USA.
Erin E Austin1Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55905 USA.
Zhan Ye2Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, WI 54449 USA.
Lisa Bastarache3Department of Biomedical Informatics, Vanderbilt University, Nashville, TN 37235 USA.
Neil Zheng3Department of Biomedical Informatics, Vanderbilt University, Nashville, TN 37235 USA.
Marylyn D Ritchie4Department of Genetics, University of Pennsylvania, Philadelphia, PA 19111 USA.
Kenneth M BorthwickDepartment of Biomedical and Translational Informatics, Geisinger, Danville, PA 17821 USA.
Marc S WilliamsGenomic Medicine Institute, Geisinger, Danville, PA 17822 USA.
Eric B Larson7Group Health Research Institute, Seattle, WA 98101 USA.
Aaron Scrol7Group Health Research Institute, Seattle, WA 98101 USA.
Gail P Jarvik8Department of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA 98195 USA.
David R Crosslin8Department of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA 98195 USA.
Kathleen LeppigGenetic Services, Kaiser Permanente of Washington, Seattle, WA 98122 USA.
Laura J Rasmussen-Torvik11Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611 USA.
Sarah A PendergrassDepartment of Biomedical and Translational Informatics, Geisinger, Danville, PA 17821 USA.
Amy C SturmGenomic Medicine Institute, Geisinger, Danville, PA 17822 USA.
Bahram Namjou12Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, University of Cincinnati, College of Medicine, Cincinnati, OH 45229 USA.
Amy Sanghavi Shah13Division of Endocrinology, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, OH 45229 USA.
Robert J Carroll3Department of Biomedical Informatics, Vanderbilt University, Nashville, TN 37235 USA.
Wendy K Chung14Department of Pediatrics, Columbia University, New York, NY 10032 USA.
Wei-Qi Wei3Department of Biomedical Informatics, Vanderbilt University, Nashville, TN 37235 USA.
QiPing Feng16Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University, Nashville, TN 37232 USA.
C Michael Stein16Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University, Nashville, TN 37232 USA.
Dan M Roden17Department of Medicine, Vanderbilt University, Nashville, TN 37232 USA.
Teri A Manolio18Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD 20892 USA.ORCID 0000-0001-5844-4382
Daniel J Schaid19Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905 USA.
Joshua C Denny3Department of Biomedical Informatics, Vanderbilt University, Nashville, TN 37235 USA.
Scott J Hebbring20Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 54449 USA.
Mariza de Andrade19Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905 USA.
Iftikhar J Kullo1Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55905 USA.
Vanderbilt University · USMayo Clinic · USGeisinger Medical Center · USCenter for Infectious Disease Research · USCincinnati Children's Hospital Medical Center · USMarshfield Clinic · USMayo Clinic in Florida · USColumbia University · USKaiser Permanente · USNational Human Genome Research Institute · USNorthwestern University · USUniversity of Pennsylvania · USUniversity of Washington · USUniversity of Washington Medical Center · US
Funding
Northwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8MJH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2MA Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4MGenomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5MVariation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4MOMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3MVanderbilt Genome-Electronic Records ProjectU01HG004603 · NHGRI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2007 to 2011
$7.3MeMERGE Coordinating Center - Administrative SupplementU01HG006385 · NHGRI · VANDERBILT UNIVERSITY · PI HARRIS, PAUL A. · 2011 to 2014
$5.4MBiorepository for Genomic Medicine in diverse CommunitiesU01HG006380 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BOTTINGER, ERWIN P. · 2011 to 2015
$4.5MGeisinger eGenonic Medicine (GeM) ProgramU01HG006382 · NHGRI · GEISINGER CLINIC · PI CAREY, DAVID J., WILLIAMS, MARC S. · 2011 to 2014
$4.3MDevelopment and Use of Network Infrastructure for High-Throughput GWA StudiesU01HG004610 · NHGRI · KAISER FOUNDATION HEALTH PLAN OF WASHINGTON · PI LARSON, ERIC B · 2007 to 2010
$4.2MA Personalized Genomic Medicine Pilot Program Using the NJgene eMERGE ExperienceU01HG006388 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CHISHOLM, REX L, SMITH, MAUREEN E · 2011 to 2014
$4.1MNCATS NIH HHS UL1 TR001422NHGRI 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 HG006375NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG006380NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01 HG006385NHGRI NIH HHS U01 HG006388NHGRI NIH HHS U01 HG006389NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008680NHLBI NIH HHS K24 HL137010NHLBI NIH HHS R01 HL133786NIGMS NIH HHS R01 GM114128NIGMS NIH HHS R01 GM120523
Abstract
We conducted an electronic health record (EHR)-based phenome-wide association study (PheWAS) to discover pleiotropic effects of variants in three lipoprotein metabolism genes
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.