Evidence map›Paper›PMID 37683633›Full record

ArticleAmerican journal of human genetics2023

Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension.

Stefan van Duijvenboden, Julia Ramírez, William J Young, Kaya J Olczak, Farah Ahmed, Mohammed J A Y Alhammadi, International Consortium of Blood Pressure, Christopher G Bell, Andrew P Morris, Patricia B Munroe

Abstract read
In one paragraph

Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing 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

16 citing papers in PubMed.

  1. Article
  2. Review
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  6. Article
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  10. International journal of molecular sciences · 2025
    Article
  11. Review
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  13. Review
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  15. Article
  16. Epigenomic insights into common human disease pathology.Cellular and molecular life sciences : CMLS · 2024
    Review
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

10 authors.

Stefan van DuijvenbodenWilliam Harvey Research Institute, Barts and the London Faculty of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, UK; Institute of Cardiovascular Science, University College London, London, UK; Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Julia RamírezWilliam Harvey Research Institute, Barts and the London Faculty of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, UK; Aragon Institute of Engineering Research, University of Zaragoza, Zaragoza, Spain; Centro de Investigación Biomédica en Red - Bioingeniería, Biomateriales y Nanomedicina, Zaragoza, Spain.
William J YoungWilliam Harvey Research Institute, Barts and the London Faculty of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, UK; Barts Heart Centre, St Bartholomew's Hospital, EC1A 7BE London, UK.
Kaya J OlczakWilliam Harvey Research Institute, Barts and the London Faculty of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, UK.
Farah AhmedWilliam Harvey Research Institute, Barts and the London Faculty of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, UK.
Mohammed J A Y AlhammadiKhalifa University, Abu Dhabi, United Arab Emirates.
International Consortium of Blood Pressure
Christopher G BellWilliam Harvey Research Institute, Barts and the London Faculty of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, UK.
Andrew P MorrisCentre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, The University of Manchester, Manchester, UK; National Institute of Health and Care Research, Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK. Electronic address: andrew.morris-5@manchester.ac.uk.
Patricia B MunroeWilliam Harvey Research Institute, Barts and the London Faculty of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, UK; National Institute of Health and Care Research, Barts Cardiovascular Biomedical Research Centre, Queen Mary University of London, EC1M 6BQ London, UK. Electronic address: p.b.munroe@qmul.ac.uk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies of blood pressure (BP) have identified >1,000 loci, but the effector genes and biological pathways at these loci are mostly unknown. Using published association summary statistics, we conducted annotation-informed fine-mapping incorporating tissue-specific chromatin segmentation and colocalization to identify causal variants and candidate effector genes for systolic BP, diastolic BP, and pulse pressure. We observed 532 distinct signals associated with ≥2 BP traits and 84 with all three. For >20% of signals, a single variant accounted for >75% posterior probability, 65 were missense variants in known (SLC39A8, ADRB2, and DBH) and previously unreported BP candidate genes (NRIP1 and MMP14). In disease-relevant tissues, we colocalized >80 and >400 distinct signals for each BP trait with cis-eQTLs and regulatory regions from promoter capture Hi-C, respectively. Integrating mouse, human disorder, gene expression and tissue abundance data, and literature review, we provide consolidated evidence for 436 BP candidate genes for future functional validation and discover several potential drug targets.

Indexed as

Genome-Wide Association StudyHypertensionAnimalsGenetic Predisposition to DiseaseHumansMiceMultiomicsPolymorphism, Single NucleotideQuantitative Trait Lociblood pressurecolocalizationdrug targetseffector genesepigenomic annotationeQTLfine-mappingGWASpQTL

Identifiers

PMID37683633
PMCPMC10577090

What Socratic holds

Textmetadata
Read underepoch 390

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 Socratic graph.