Evidence map›Paper›PMID 38241369›Full record

ArticleScience advances2024

Integrative analysis of noncoding mutations identifies the druggable genome in preterm birth.

Cheng Wang, Yuejun Jessie Wang, Lihua Ying, Ronald J Wong, Cecele C Quaintance, Xiumei Hong, Norma Neff, Xiaobin Wang, Joseph R Biggio, Sam Mesiano and 6 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Science advances, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.9field-weighted citation impact, top 15% of its field
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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Spatial Logic and Evolutionary Innovation in Human Placentation.bioRxiv : the preprint server for biology · 2026
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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

16 authors at 6 institutions in 1 country.

Cheng WangEli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, Bakar Computational Health Sciences Institute, Parker Institute for Cancer Immunotherapy, and Department of Neurology, School of Medicine, University of California, San Francisco, CA, USA.ORCID 0000-0003-0450-6394
Yuejun Jessie WangEli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, Bakar Computational Health Sciences Institute, Parker Institute for Cancer Immunotherapy, and Department of Neurology, School of Medicine, University of California, San Francisco, CA, USA.
Lihua YingDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Ronald J WongDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0003-1205-6936
Cecele C QuaintanceDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-9473-7243
Xiumei HongCenter on the Early Life Origins of Disease, Department of Population Family and Reproductive Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.ORCID 0000-0003-3992-1918
Norma NeffChan Zuckerberg Biohub, San Francisco, CA, USA.
Xiaobin WangCenter on the Early Life Origins of Disease, Department of Population Family and Reproductive Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.
Joseph R BiggioDepartment of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID 0000-0003-3748-7206
Sam MesianoDepartment of Reproductive Biology, Case Western Reserve University and Department of Obstetrics and Gynecology, University Hospitals of Cleveland, Cleveland, OH, USA.
Stephen R QuakeChan Zuckerberg Biohub, San Francisco, CA, USA.ORCID 0000-0002-1613-0809
Cristina M AlviraDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-6921-0001
David N CornfieldDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-1684-2056
David K StevensonDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Gary M ShawDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0001-7438-4914
Jingjing LiEli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, Bakar Computational Health Sciences Institute, Parker Institute for Cancer Immunotherapy, and Department of Neurology, School of Medicine, University of California, San Francisco, CA, USA.ORCID 0000-0001-6025-9522
Stanford University · USBroad Center · USChan Zuckerberg Initiative (United States) · USJohns Hopkins University · USOchsner Health System · USUniversity Hospitals of Cleveland · US

Funding

Novel pathways regulating calcium mediated contractility in the pregnant uterusR01HD092316 · NICHD · STANFORD UNIVERSITY · PI ALVIRA, CRISTINA MARIA, CORNFIELD, DAVID N. · 2018 to 2022
$2.7M
Pericytes and postnatal alveolarization: Role of hypoxia inducible factorsR01HL160018 · NHLBI · STANFORD UNIVERSITY · PI ALVIRA, CRISTINA MARIA, CORNFIELD, DAVID N. · 2022 to 2025
$2.6M
A novel mechanism for inflammation-induced preterm birth via PR-A phosphorylationR01HD103676 · NICHD · CASE WESTERN RESERVE UNIVERSITY · PI MESIANO, SAM ANTONIO · 2021 to 2025
$2.5M
Single-Cell Analysis of the Noncoding Genome in Human Diseases and EvolutionR35GM142983 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LI, JINGJING · 2021 to 2025
$2.0M
NHLBI NIH HHS R01 HL160018NICHD NIH HHS R01 HD092316NICHD NIH HHS R01 HD103676NIGMS NIH HHS R35 GM142983
6 · The paper itself

Abstract

Preterm birth affects ~10% of pregnancies in the US. Despite familial associations, identifying at-risk genetic loci has been challenging. We built deep learning and graphical models to score mutational effects at base resolution via integrating the pregnant myometrial epigenome and large-scale patient genomes with spontaneous preterm birth (sPTB) from European and African American cohorts. We uncovered previously unidentified sPTB genes that are involved in myometrial muscle relaxation and inflammatory responses and that are regulated by the progesterone receptor near labor onset. We studied genomic variants in these genes in our recruited pregnant women administered progestin prophylaxis. We observed that mutation burden in these genes was predictive of responses to progestin treatment for preterm birth. To advance therapeutic development, we screened ~4000 compounds, identified candidate molecules that affect our identified genes, and experimentally validated their therapeutic effects on regulating labor. Together, our integrative approach revealed the druggable genome in preterm birth and provided a generalizable framework for studying complex diseases.

Indexed as

Premature BirthFemaleGenetic LociHumansInfant, NewbornMutationPregnancyProgestinsProgestins

Identifiers

PMID38241369
PMCPMC10798565
OpenAlexW4391019511

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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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.