Evidence map›Paper›PMID 29317701›Full record

ArticleScientific reports2018

A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth.

Nadav Rappoport, Jonathan Toung, Dexter Hadley, Ronald J Wong, Kazumichi Fujioka, Jason Reuter, Charles W Abbott, Sam Oh, Donglei Hu, Celeste Eng and 24 more

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

Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 3 pooled it
8.3field-weighted citation impact, top 2% 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

33 citing papers in PubMed, 3 syntheses or guidelines pooled it, 50 citations in OpenAlex.

  1. Pooled it
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  14. Article
  15. Time-varying effects are common in genetic control of gestational duration.medRxiv : the preprint server for health sciences · 2023
    Article
  16. Association of theInternational journal of molecular sciences · 2022
    Article
  17. Genetics, epigenetics, and transcriptomics of preterm birth.American journal of reproductive immunology (New York, N.Y. : 1989) · 2022
    Review
  18. Article
  19. Systematic review of preterm birth multi-omic biomarker studies.Expert reviews in molecular medicine · 2022
    Review
  20. 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

34 authors at 6 institutions in 2 countries.

Nadav RappoportInstitute for Computational Health Sciences, University of California, San Francisco, 94143, CA, USA.ORCID http://orcid.org/0000-0002-7218-2558
Jonathan ToungDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Dexter HadleyInstitute for Computational Health Sciences, University of California, San Francisco, 94143, CA, USA.
Ronald J WongDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Kazumichi FujiokaDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-9913-6447
Jason ReuterDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Charles W AbbottDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Sam OhInstitute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-2815-6037
Donglei HuInstitute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Celeste EngInstitute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Scott HuntsmanInstitute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Dale L BodianInova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA.
John E NiederhuberInova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA.
Xiumei HongDepartment of Population, Family and Reproductive Health, Center on the Early Life Origins of Disease, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD, USA.
Ge ZhangCincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Weronika Sikora-WohfeldDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Christopher R GignouxDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Hui WangDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
John OehlertDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-6392-3430
Laura L Jelliffe-PawlowskiDepartment of Biostatistics, University of California, San Francisco, CA, USA.
Jeffrey B GouldDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Gary L DarmstadtDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Xiaobin WangDepartment of Population, Family and Reproductive Health, Center on the Early Life Origins of Disease, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD, USA.
Carlos D BustamanteDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Michael P SnyderDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Elad ZivInstitute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Nikolaos A PatsopoulosSystems Biology and Computer Science Program, Ann Romney Center of Neurological Diseases, Department of Neurology, Division of Genetics, Brigham & Women's Hospital, Boston, MA, USA.
Louis J MugliaCincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.ORCID http://orcid.org/0000-0002-0301-8770
Esteban BurchardInstitute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Gary M ShawDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Hugh M O'BrodovichDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
David K StevensonDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Atul J ButteInstitute for Computational Health Sciences, University of California, San Francisco, 94143, CA, USA. atul.butte@ucsf.edu.ORCID http://orcid.org/0000-0002-7433-2740
Marina SirotaInstitute for Computational Health Sciences, University of California, San Francisco, 94143, CA, USA. marina.sirota@ucsf.edu.
Stanford University · USUniversity of California, San Francisco · USCincinnati Children's Hospital Medical Center · USInova Health System · USJohns Hopkins University · USBroad Institute · US

Funding

INSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2M
New Approaches for Empowering Studies of Asthma in Populations of African DescentR01HL104608 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI BARNES, KATHLEEN C, KENNY, EIMEAR ELIZABETH · 2011 to 2022
$23.1M
Special EquipmentP50HG007735 · NHGRI · STANFORD UNIVERSITY · PI CHANG, HOWARD Y · 2014 to 2018
$15.2M
Preterm Birth, Maternal and Cord Blood Metabolome, and Child Metabolic RiskR01HD041702 · NICHD · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI Frank B Hu, XIAOBIN WANG · 2001 to 2026
$11.1M
The Airway Functional Genomics of Bronchodilator Drug Response in Minority Children with AsthmaR01HL117004 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, SEIBOLD, MAX A · 2013 to 2022
$9.3M
Social Interventions to address disparities In young adult tobacco useP60MD006902 · NIMHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BIBBINS-DOMINGO, KIRSTEN · 2012 to 2016
$6.4M
Genomic Influences on Bronchopulmonary Dysplasia-A Population-Based StudyRC2HL101748 · NHLBI · STANFORD UNIVERSITY · PI OBRODOVICH, HUGH · 2009 to 2010
$3.5M
Crowd-Assisted Deep Learning (CrADLe) Digital Curation to Translate Big Data into Precision MedicineU01LM012675 · NLM · UNIVERSITY OF CENTRAL FLORIDA · PI HADLEY, DEXTER D · 2017 to 2020
$2.1M
Promoting Research Opportunities Fully--Prospective Academics Transforming HealthR25MD006832 · NIMHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ARONSON, LOUISE, FERNANDEZ, ALICIA · 2011 to 2015
$1.7M
UCSF Career Development Program in Omics of Lung DiseasesK12HL119997 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BURCHARD, ESTEBAN GONZALEZ, ERLE, DAVID J · 2013 to 2017
$1.4M
Molecular Epidemiology of Preterm BirthR21ES011666 · NIEHS · CHILDREN'S MEMORIAL HOSPITAL (CHICAGO) · PI WANG, XIAOBIN · 2002 to 2004
$562k
Elucidating the Role of the Genetic and Environmental Determinants of Preterm Birth Using Integrative Computational ApproachesK01LM012381 · NLM · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SIROTA, MARINA · 2016 to 2018
$531k
NHGRI NIH HHS P50 HG007735NHGRI NIH HHS T32 HG000044NHLBI NIH HHS K12 HL119997NHLBI NIH HHS R01 HL104608NHLBI NIH HHS R01 HL117004NHLBI NIH HHS RC2 HL101748NICHD NIH HHS R01 HD041702NICHD NIH HHS R21 HD066471NIEHS NIH HHS R21 ES011666NIEHS NIH HHS R21 ES024844NIMHD NIH HHS P60 MD006902NIMHD NIH HHS R25 MD006832NLM NIH HHS K01 LM012381NLM NIH HHS U01 LM012675
6 · The paper itself

Abstract

Preterm birth (PTB), or the delivery prior to 37 weeks of gestation, is a significant cause of infant morbidity and mortality. Although twin studies estimate that maternal genetic contributions account for approximately 30% of the incidence of PTB, and other studies reported fetal gene polymorphism association, to date no consistent associations have been identified. In this study, we performed the largest reported genome-wide association study analysis on 1,349 cases of PTB and 12,595 ancestry-matched controls from the focusing on genomic fetal signals. We tested over 2 million single nucleotide polymorphisms (SNPs) for associations with PTB across five subpopulations: African (AFR), the Americas (AMR), European, South Asian, and East Asian. We identified only two intergenic loci associated with PTB at a genome-wide level of significance: rs17591250 (P = 4.55E-09) on chromosome 1 in the AFR population and rs1979081 (P = 3.72E-08) on chromosome 8 in the AMR group. We have queried several existing replication cohorts and found no support of these associations. We conclude that the fetal genetic contribution to PTB is unlikely due to single common genetic variant, but could be explained by interactions of multiple common variants, or of rare variants affected by environmental influences, all not detectable using a GWAS alone.

Indexed as

Polymorphism, Single NucleotideAdultChromosomes, Human, Pair 1Chromosomes, Human, Pair 8FemaleHumansInfant, NewbornMaleMiddle AgedPremature BirthRacial Groups

Identifiers

PMID29317701
PMCPMC5760643
OpenAlexW2782101529

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.