ArticleGenetic epidemiology2018
Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts.
Open access · greenAbstract read
In one paragraph
Article in Genetic epidemiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
2.0field-weighted citation impact, top 12% of its field
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.
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.
Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Systematic review reveals multiple sexually antagonistic polymorphisms affecting human disease and complex traits.Evolution; international journal of organic evolution · 2021Pooled it
- A study of sex-specific genetic effects underlying risk of orofacial clefts also highlights the potential impact of sequencing errors due to short read mis-mapping.medRxiv : the preprint server for health sciences · 2026Article
- Evaluating Differences in Nonsyndromic Orofacial Clefts by Infant Sex: National Birth Defects Prevention Study, 1997-2011.The Journal of pediatrics · 2026Article
- Association ofGenes · 2025Article
- Article
- Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.bioRxiv : the preprint server for biology · 2025Article
- Analysis of the profile of patients admitted to an orofacial cleft rehabilitation service: An observational study, Cuiabá, 2005-2023.Epidemiologia e servicos de saude : revista do Sistema Unico de Saude do Brasil · 2025Observational
- Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.Human genetics · 2024Article
- Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus.Nature communications · 2024Article
- The Global Occurrences of Cleft Lip and Palate in Pediatric Patients and Their Association with Demographic Factors: A Narrative Review.Children (Basel, Switzerland) · 2024Review
- How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil?Genetics and molecular biology · 2023Article
- Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.Journal of dental research · 2022Article
- Embryologically Based Classification Specifies Gender Differences in the Prevalence of Orofacial Cleft Subphenotypes.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2021Article
- Nonlinear gene expression-phenotype relationships contribute to variation and clefting in the A/WySn mouse.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Article
- Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.PLoS genetics · 2019Article
- Dynamic mRNA Expression Analysis of the Secondary Palatal Morphogenesis in Miniature Pigs.International journal of molecular sciences · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 11 institutions in 7 countries.
Jenna C CarlsonDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.
Nichole L NideyDepartment of Epidemiology, College of Public Health, University of Iowa, Iowa City, Iowa.
Azeez ButaliDepartment of Oral Pathology, Radiology and Medicine, Dows Institute for Dental Research, College of Dentistry, University of Iowa, Iowa City, Iowa.
Carmen J BuxoDental and Craniofacial Genomics Core, School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico.
Kaare ChristensenDepartment of Epidemiology, Institute of Public Health, University of Southern Denmark, Odense, Denmark.
Frederic W-D DeleyiannisDepartment of Surgery, Plastic and Reconstructive Surgery Division, University of Colorado School of Medicine, Denver, Colorado.
Jacqueline T HechtDepartment of Pediatrics, McGovern Medical School and School of Dentistry, UT Health at Houston, Houston, Texas.
L Leigh FieldDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Lina M Moreno-UribeDepartment of Orthodontics, College of Dentistry, University of Iowa, Iowa City, Iowa.
Ieda M OrioliECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro, Brazil.
Fernando A PolettaECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics), Rio de Janeiro, Brazil.
Carmencita PadillaDepartment of Pediatrics, College of Medicine, University of the Philippines, Manila, Philippines.
Alexandre R VieiraDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.
Seth M WeinbergDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.
George L WehbyDepartment of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, Iowa.
Eleanor FeingoldDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.
Jeffrey C MurrayDepartment of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa.
Mary L MarazitaDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.
Elizabeth J LeslieDepartment of Human Genetics, Emory University School of Medicine, Emory University, Atlanta, Georgia.ORCID 0000-0002-5735-1712
University of Iowa · USUniversity of Pittsburgh · USConsejo Nacional de Investigaciones Científicas y Técnicas · AREmory University · USThe University of Texas Health Science Center · USUniversidade Federal do Rio de Janeiro · BRUniversity of British Columbia · CAUniversity of Colorado Denver · USUniversity of Puerto Rico System · PRUniversity of Southern Denmark · DKUniversity of the Philippines System · PH
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
$30.0MTECHNOLOGIES AND RESOURCES FOR CORE LABORATORIESU54MD007587 · NIMHD · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI LUCIANO, CARLOS A., NOBOA, CARIAMARIE · 2012 to 2018
$23.2MExtending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7MMOLECULAR 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
$7.6MMolecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8MCleft Lip Genetics: A Multi Center International ConsortiumR01DE014667 · NIDCR · UNIVERSITY OF IOWA · PI LIDRAL, ANDREW C · 2001 to 2009
$4.2MGENE-ENVIRONMENT INTERACTION IN FACIAL CLEFTSR01DE011948 · NIDCR · UNIVERSITY OF SOUTHERN DENMARK · PI CHRISTENSEN, KAARE · 1998 to 2006
$1.8MMOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATER01DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 1988 to 2003
$1.5MHealth outcomes and improved phenotypic characterization of cleft lip and palateR01DD000295 · DD · UNIVERSITY OF IOWA · PI WEHBY, GEORGE L · 2007 to 2009
$1.4MGenetic and Environmental Risks for Oral Clefts in Puerto Rican HispanicsR00DE024571 · NIDCR · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI BUXO, CARMEN J. · 2018 to 2021
$1.2MHuman genomics analysis interface for FaceBase 2U01DE024425 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L. · 2014 to 2018
$1.2MGENETIC MAPPING STUDIES OF ORAL-FACIAL CLEFTS IN CHINAR01DE009886 · NIDCR · VIRGINIA COMMONWEALTH UNIVERSITY · PI MARAZITA, MARY L · 1992 to 2002
$1.0MAgencia Nacional de Promoción Científica y Tecnológica PICT-2016-3869NCBDD CDC HHS R01 DD000295NIDCR NIH HHS K99 DE024571NIDCR NIH HHS R00 DE024571NIDCR NIH HHS R00 DE025060NIDCR NIH HHS R01 DE008559NIDCR NIH HHS R01 DE009886NIDCR NIH HHS R01 DE011931NIDCR NIH HHS R01 DE011948NIDCR NIH HHS R01 DE014667NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R21 DE016930NIDCR NIH HHS R37 DE008559NIDCR NIH HHS U01 DE024425NIH HHS DD000295NIH HHS DE008559NIH HHS DE009886NIH HHS DE011931NIH HHS DE012472NIH HHS DE014667NIH HHS DE016930NIH HHS K99-DE024571NIH HHS MD001830NIH HHS R00-DE025060NIH HHS R01-DE011948NIH HHS R01-DE014667NIH HHS R01-DE016148NIH HHS U01-DE024425NIH HHS U54-MD007587NIH HHS X01-HG007485NIMHD NIH HHS S21 MD001830NIMHD NIH HHS U54 MD007587
Abstract
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans and is notable for its apparent sexual dimorphism where approximately twice as many males are affected as females. The sources of this disparity are largely unknown, but interactions between genetic and sex effects are likely contributors. We examined gene-by-sex (G × S) interactions in a worldwide sample of 2,142 NSCL/P cases and 1,700 controls recruited from 13 countries. First, we performed genome-wide joint tests of the genetic (G) and G × S effects genome-wide using logistic regression assuming an additive genetic model and adjusting for 18 principal components of ancestry. We further interrogated loci with suggestive results from the joint test ( p < 1.00 × 10
Indexed as
AllelesGenetic Predisposition to DiseaseGenome-Wide Association StudySex CharacteristicsBrainCase-Control StudiesCleft LipCleft PalateEpistasis, GeneticFemaleGene FrequencyGenetic LociHumansMaleModels, GeneticPolymorphism, Single Nucleotidecleft lipcleft palategenetic riskoral facial cleft
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
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 OpenQuestion graph.