Evidence map›Paper›PMID 37066311›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.

Kelsey Robinson, Trenell J Mosley, Kenneth S Rivera-González, Christopher R Jabbarpour, Sarah W Curtis, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler and 11 more

Open access · greenAbstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed, 5 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors at 12 institutions in 4 countries.

Kelsey RobinsonDepartment of Human Genetics, Emory University, Atlanta, GA.
Trenell J MosleyDepartment of Human Genetics, Emory University, Atlanta, GA.
Kenneth S Rivera-GonzálezDepartment of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI.
Christopher R JabbarpourDepartment of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI.
Sarah W CurtisDepartment of Human Genetics, Emory University, Atlanta, GA.
Wasiu Lanre AdeyemoDepartment of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria.
Terri H BeatyDepartment of Epidemiology, Johns Hopkins University, Baltimore, MD.
Azeez ButaliDepartment of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA.
Carmen J BuxóSchool of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico.
David J CutlerDepartment of Human Genetics, Emory University, Atlanta, GA.
Michael P EpsteinDepartment of Human Genetics, Emory University, Atlanta, GA.
Lord Jj GowansDepartment of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.
Jacqueline T HechtDepartment of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX.
Jeffrey C MurrayDepartment of Pediatrics, University of Iowa, Iowa City, IA.
Gary M ShawDepartment of Pediatrics, Stanford University, Stanford, CA.
Lina Moreno UribeDepartment of Orthodontics & The Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA, USA.
Seth M WeinbergCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, and Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA.
Harrison BrandCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA.
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, and Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA.
Robert J LipinskiDepartment of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI.
Elizabeth J LeslieDepartment of Human Genetics, Emory University, Atlanta, GA.
Emory University · USUniversity of Iowa · USUniversity of Wisconsin–Madison · USUniversity of Pittsburgh · USJohns Hopkins University · USKwame Nkrumah University of Science and Technology · GHMassachusetts General Hospital · USNational Institutes of Health · USStanford University · USThe University of Texas Health Science Center at Houston · USUniversity of Lagos · NGUniversity of Puerto Rico System · PR

Funding

Hispanics in Research Capability: SoHP & SOM Partnership (HIREC)S21MD001830 · NIMHD · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI ELIAS BONETA, AUGUSTO R, ESTAPE, ESTELA S · 2005 to 2010
$30.0M
Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
Tracking and Evaluation CoreU54GM133807 · NIGMS · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI BONILLA-FELIX, MELVIN · 2020 to 2024
$17.7M
PREDOCTORAL TRAINING PROGRAM IN GENETICST32GM008490 · NIGMS · EMORY UNIVERSITY · PI BOSS, JEREMY M. · 1993 to 2022
$8.0M
MOLECULAR STUDIES IN NONSYNDROMIC CLEFT LIP AND PALATER01DE011931 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BLANTON, SUSAN HALLORAN, HECHT, JACQUELINE T · 1999 to 2017
$7.6M
Molecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8M
International Genetic Epidemiology of Oral CleftsR01DE014581 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2004 to 2013
$6.6M
Whole Genome Sequencing for Orofacial Clefts, Incidental Findings and Role of Community GatekeepersR01DE028300 · NIDCR · UNIVERSITY OF IOWA · PI BUTALI, AZEEZ · 2020 to 2024
$3.9M
Genomics of Cleft PalateR01DE030342 · NIDCR · EMORY UNIVERSITY · PI ELIZABETH JANE LESLIE-CLARKSON · 2021 to 2026
$3.5M
Genetic and Environmental Risks for Oral Clefts in Puerto Rican HispanicsR00DE024571 · NIDCR · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI BUXO, CARMEN J. · 2018 to 2021
$1.2M
DNA methylation in orofacial cleftingR56DE030917 · NIDCR · UNIVERSITY OF WISCONSIN-MADISON · PI LIPINSKI, ROBERT · 2022 to 2022
$438k
Identifying novel genetic risks for cleft palate using whole genome sequencingF31DE032588 · NIDCR · EMORY UNIVERSITY · PI WALLACE, KELSEY REBECCA ROBINSON · 2022 to 2023
$89k
NCBDD CDC HHS U01 DD001226NCBDD CDC HHS U01 DD001302NHLBI NIH HHS HHSN268201700006CNIDCR NIH HHS F31 DE032588NIDCR NIH HHS F32 DE032260NIDCR NIH HHS R00 DE024571NIDCR NIH HHS R01 DE011931NIDCR NIH HHS R01 DE014581NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01 DE028300NIDCR NIH HHS R01 DE030342NIDCR NIH HHS R37 DE008559NIDCR NIH HHS R56 DE030917NIGMS NIH HHS T32 GM008490NIGMS NIH HHS U54 GM133807NIMHD NIH HHS S21 MD001830Wellcome Trust
6 · The paper itself

Abstract

Orofacial clefts (OFCs) are the most common craniofacial birth defects and are often categorized into two etiologically distinct groups: cleft lip with or without cleft palate (CL/P) and isolated cleft palate (CP). CP is highly heritable, but there are still relatively few established genetic risk factors associated with its occurrence compared to CL/P. Historically, CP has been studied as a single phenotype despite manifesting across a spectrum of defects involving the hard and/or soft palate. We performed GWAS using transmission disequilibrium tests using 435 case-parent trios to evaluate broad risks for any cleft palate (ACP, n=435), as well as subtype-specific risks for any cleft soft palate (CSP, n=259) and any cleft hard palate (CHP, n=125). We identified a single genome-wide significant locus at 9q33.3 (lead SNP rs7035976, p=4.24×10

Identifiers

PMID37066311
PMCPMC10104215
OpenAlexW4323539137

What OpenQuestion holds

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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.