Evidence map›Paper›PMID 39361040›Full record

ArticleHuman genetics2024

Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.

Kelsey Robinson, Randy Parrish, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, Lord J J Gowans, Jacqueline T Hecht, Lina Moreno Uribe, Jeffrey C Murray and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors.

Kelsey RobinsonDepartment of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Randy ParrishDepartment of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Wasiu Lanre AdeyemoDepartment of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, 101017, Nigeria.
Terri H BeatyDepartment of Epidemiology, Johns Hopkins University, Baltimore, MD, 21218, USA.
Azeez ButaliDepartment of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA, 52242, USA.
Carmen J BuxóSchool of Dental Medicine, University of Puerto Rico, San Juan, PR, 00925, USA.
Lord J J 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, 77030, USA.
Lina Moreno UribeDepartment of Orthodontics and The Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA, 52242, USA.
Jeffrey C MurrayDepartment of Pediatrics, University of Iowa, Iowa City, IA, 52242, USA.
Gary M ShawDepartment of Pediatrics, Stanford University, Stanford, CA, 94305, USA.
Seth M WeinbergDepartment of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, 15260, USA.
Harrison BrandCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Mary L MarazitaDepartment of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, 15260, USA.
David J CutlerDepartment of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Michael P EpsteinDepartment of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Jingjing YangDepartment of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Elizabeth J LeslieDepartment of Human Genetics, Emory University, Atlanta, GA, 30322, USA. ejlesli@emory.edu.

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 MAYS, MARY HELEN · 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
CALIFORNIA CENTER OF BD-STEPS II FINDING CAUSES AND PREVENTIVES OF BIRTH DEFECTSU01DD001226 · DD · STANFORD UNIVERSITY · PI SHAW, GARY M · 2018 to 2022
$4.0M
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
Genomic Risk Variants in Orofacial Clefting: Discovery and Functional ValidationR01DE032319 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Mary L. Marazita, Stephen A Murray · 2023 to 2026
$2.8M
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
NCBDD CDC HHS U01 DD001226NCBDD CDC HHS U01 DD001302NHLBI NIH HHS HHSN268201700006CNIDCR NIH HHS F31 DE032588NIDCR NIH HHS K43 DE029427NIDCR 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 R01 DE032319NIDCR NIH HHS R37 DE008559NIGMS NIH HHS T32 GM008490NIGMS NIH HHS U54 GM133807NIH HHS R00-DE024571NIH HHS R01-DE011931NIH HHS R01-DE014581NIH HHS R01-DE016148NIH HHS R01-DE028300NIH HHS R37-DE008559NIH HHS T32-GM008490NIH HHS X01-HG010835NIMHD NIH HHS S21 MD001830
6 · The paper itself

Abstract

Structural birth defects affect 3-4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs) are the most common craniofacial structural birth defects and are often divided into cleft lip with or without cleft palate (CL/P) and cleft palate only (CP). Previous studies have found sex-specific risks for CL/P, but these risks have yet to be evaluated in CP. CL/P is more common in males and CP is more frequently observed in females, so we hypothesized there would also be sex-specific differences for CP. Using a trio-based cohort, we performed sex-stratified genome-wide association studies (GWAS) based on proband sex followed by a genome-wide gene-by-sex (G × S) interaction testing. There were 13 loci significant for G × S interactions, with the top finding in LTBP1 (RR = 3.37 [2.04-5.56], p = 1.93 × 10

Indexed as

Cleft PalateGenome-Wide Association StudyLatent TGF-beta Binding ProteinsZebrafishAnimalsCleft LipFemaleGenetic Predisposition to DiseaseHumansMaleMicePolymorphism, Single NucleotideRisk FactorsSex FactorsLatent TGF-beta Binding Proteins

Identifiers

PMID39361040
PMCPMC12087800

What Socratic holds

Textmetadata
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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.