Evidence map›Paper›PMID 27686272›Full record

ReviewTrends in cardiovascular medicine2017

Leveraging human genetics to guide drug target discovery.

Nathan O Stitziel, Sekar Kathiresan

Abstract readReview
In one paragraph

Review in Trends in cardiovascular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

  1. Connecting to improve drug discovery.Nature cardiovascular research · 2026
    Article
  2. Article
  3. Review
  4. Review
  5. Article
  6. Loss-of-function of neuroplasticity-related genes confers risk for human neurodevelopmental disorders.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2018
    Article
  7. The genetics of obstructive sleep apnoea.Respirology (Carlton, Vic.) · 2018
    Review
  8. Article
  9. Review
  10. ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.Journal of the American College of Cardiology · 2017
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors.

Nathan O StitzielCardiovascular Division, Department of Medicine, Washington University School of Medicine, Saint Louis, MO; Department of Genetics, Washington University School of Medicine, Saint Louis, MO; McDonnell Genome Institute, Washington University School of Medicine, Saint Louis, MO. Electronic address: nstitziel@wustl.edu.
Sekar KathiresanCenter for Human Genetic Research, Massachusetts General Hospital, Boston, MA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA; Department of Medicine, Harvard Medical School, Boston, MA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA. Electronic address: skathiresan@partners.org.

Funding

ANGPTL3 DEFICIENCY AND ATHEROSCLEROSIS IN HUMANSR01HL131961 · NHLBI · WASHINGTON UNIVERSITY · PI STITZIEL, NATHAN OLIVER · 2016 to 2020
$3.2M
Discovery of Mendelian Dyslipidemia and Heart Attack Genes Using Exome SequencingR01HL107816 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI KATHIRESAN, SEKAR · 2011 to 2015
$2.7M
Rare coding variation and risk for myocardial infarctionK08HL114642 · NHLBI · WASHINGTON UNIVERSITY · PI STITZIEL, NATHAN OLIVER · 2012 to 2016
$703k
NHLBI NIH HHS K08 HL114642NHLBI NIH HHS R01 HL107816NHLBI NIH HHS R01 HL131961
6 · The paper itself

Abstract

Identifying appropriate molecular targets is a critical step in drug development. Despite many advantages, the traditional tools of observational epidemiology and cellular or animal models of disease can be misleading in identifying causal pathways likely to lead to successful therapeutics. Here, we review some favorable aspects of human genetics studies that have the potential to accelerate drug target discovery. These include using genetic studies to identify pathways relevant to human disease, leveraging human genetics to discern causal relationships between biomarkers and disease, and studying genetic variation in humans to predict the potential efficacy and safety of inhibitory compounds aimed at molecular targets. We present some examples taken from studies of plasma lipids and coronary artery disease to highlight how human genetics can accelerate therapeutics development.

Indexed as

GenomicsAnimalsCardiovascular AgentsCardiovascular DiseasesDrug DiscoveryGenetic Predisposition to DiseaseHumansMolecular Targeted TherapyPharmacogeneticsPhenotypeRisk FactorsSignal TransductionCardiovascular AgentsCardiovascular diseaseHuman genetics

Identifiers

PMID27686272
PMCPMC5326691

What OpenQuestion holds

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Registered trials

None linked

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.