ArticleHuman molecular genetics2016
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.
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Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 125 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
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125citing papers in PubMed, 5 pooled it
27.9field-weighted citation impact, top 1% of its field
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The trial behind it
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Who cites it
125 citing papers in PubMed, 5 syntheses or guidelines pooled it, 225 citations in OpenAlex.
- Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk.PLoS genetics · 2025Pooled it
- Genome-wide meta-analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population.Molecular genetics & genomic medicine · 2023Pooled it
- Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.Scientific reports · 2022Pooled it
- Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.Human genetics · 2017Pooled it
- Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.Human molecular genetics · 2017Pooled it
- Trial
- Trio-based GWAS reveals loci associated with different forms of isolated cleft lip.HGG advances · 2026Article
- Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate.European journal of human genetics : EJHG · 2026Article
- 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
- A Combination of Variants in SEPTIN9 and MSX1 Genes Leads to the Formation of Orofacial Clefts.Genes to cells : devoted to molecular & cellular mechanisms · 2026Article
- Cis-regulation ofGenes & diseases · 2026Article
- Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip.medRxiv : the preprint server for health sciences · 2026Article
- A small-molecule screen identifies that elafibranor links mechanical cues and Irf6-dependent epithelial differentiation.Disease models & mechanisms · 2026Article
- Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.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
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
- Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.Human molecular genetics · 2025Article
- Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate.Human molecular genetics · 2025Article
- Genetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis.Communications biology · 2025Article
- Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.Genes · 2025Article
65 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
55 authors at 20 institutions in 17 countries.
Elizabeth J LeslieDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Jenna C CarlsonDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
John R ShafferDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Eleanor FeingoldDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
George WehbyDepartment of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52246, USA.
Cecelia A LaurieDepartment of Biostatistics, Genetic Coordinating Center, University of Washington, Seattle, WA 98195, USA.
Deepti JainDepartment of Biostatistics, Genetic Coordinating Center, University of Washington, Seattle, WA 98195, USA.
Cathy C LaurieDepartment of Biostatistics, Genetic Coordinating Center, University of Washington, Seattle, WA 98195, USA.
Kimberly F DohenyCenter for Inherited Disease Research, Johns Hopkins University, Baltimore, MD 21224, USA.
Toby McHenryDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Judith ResickDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Carla SanchezDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Jennifer JacobsDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Beth EmanueleDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Alexandre R VieiraDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Katherine NeiswangerDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Andrew C LidralDepartment of Orthodontics.
Luz Consuelo Valencia-RamirezFundación Clínica Noel, Medellin 050012, Colombia.
Ana Maria Lopez-PalacioDepartment of Basic Integrated Studies, College of Dentistry.
Dora Rivera ValenciaPopulation Genetics and Mutacarcinogenesis Group, University of Antioquia, Medellin 050001, Colombia.
Mauricio Arcos-BurgosGenomics and Predictive Medicine, Genome Biology Department, John Curtin School of Medical Research, ANU College of Medicine, Biology & Environment, The Australian National University, Canberra, ACT 0200, Australia.
Andrew E CzeizelFoundation for the Community Control of Hereditary Diseases, Budapest 1051, Hungary.
L Leigh FieldDepartment of Medical Genetics, University of British Columbia, Vancouver V6H 3N1, Canada.
Carmencita D PadillaDepartment of Pediatrics, College of Medicine; and Institute of Human Genetics, National Institutes of Health; University of the Philippines Manila, Manilla, The Philippines 1000.
Eva Maria C Cutiongco-de la PazDepartment of Pediatrics, College of Medicine; and Institute of Human Genetics, National Institutes of Health; University of the Philippines Manila, Manilla, The Philippines 1000.
Frederic DeleyiannisDepartment of Surgery, Plastic and Reconstructive Surgery, University of Colorado School of Medicine, Denver, CO 80045, USA.
Kaare ChristensenDepartment of Epidemiology, Institute of Public Health, University of Southern Denmark, Odense DK-5230 Denmark.
Ronald G MungerDepartment of Nutrition, Dietetics, and Food Sciences, Utah State University, Logan, UT 84322, USA.
Rolv T LieDepartment of Global Public Health and Primary Care, University of Bergen, Bergen, NO-5020 Norway.
Allen WilcoxEpidemiology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
Paul A RomittiDepartment of Epidemiology, College of Public Health.
Eduardo E CastillaCEMIC: Center for Medical Education and Clinical Research, Buenos Aires 1431, Argentina.
Juan C MerebECLAMC (Latin American Collaborative Study of Congenital Malformations) at Hospital de Area, El Bolson 8430, Argentina.
Fernando A PolettaCEMIC: Center for Medical Education and Clinical Research, Buenos Aires 1431, Argentina.
Iêda M OrioliECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics).
Flavia M CarvalhoLaboratory of Congenital Malformation Epidemiology, Oswaldo Cruz Institute, FIOCRUZ, Rio de Janeiro 21040-360, Brazil.
Jacqueline T HechtDepartment of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Susan H BlantonDr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics, Mailman School of Medicine, University of Miami, Miami, FL 33124, USA.
Carmen J BuxóSchool of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico 00936.
Azeez ButaliDepartment of Oral Pathology, Radiology and Medicine, Dows Institute for Dental Research, College of Dentistry.
Peter A MosseyDepartment of Orthodontics, University of Dundee, Dundee DD1 4HN, Scotland.
Wasiu L AdeyemoDepartment of Oral and Maxillofacial Surgery. College of Medicine, University of Lagos, Lagos P.M.B. 12003, Nigeria.
Olutayo JamesDepartment of Oral and Maxillofacial Surgery. College of Medicine, University of Lagos, Lagos P.M.B. 12003, Nigeria.
Ramat O BraimahDepartment of Oral and Maxillofacial Surgery, Obafemi Awolowo University, Ife-Ife P.M.B. 13, Nigeria.
Babatunde S AregbesolaDepartment of Oral and Maxillofacial Surgery, Obafemi Awolowo University, Ife-Ife P.M.B. 13, Nigeria.
Mekonen A EsheteSurgical Department, School of Medicine, Addis Ababa University, Addis Ababa, P.O. Box 26493, Ethiopia.
Fikre AbateSurgical Department, School of Medicine, Addis Ababa University, Addis Ababa, P.O. Box 26493, Ethiopia.
Mine KoruyucuDepartment of Pedodontics, Istanbul University, Istanbul 34116, Turkey.
Figen SeymenDepartment of Pedodontics, Istanbul University, Istanbul 34116, Turkey.
Lian MaPeking University, School of Stomatology, Beijing 100081, China.
Javier Enríquez de SalamancaHospital Infantil Universitario Niño Jesús; Unidad de Cirugía Plástica, Madrid 28009, Spain.
Seth M WeinbergDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Lina MorenoDepartment of Orthodontics.
Jeffrey C MurrayDepartment of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Mary L MarazitaDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA marazita@pitt.edu.
University of Pittsburgh · USUniversity of Washington · USAddis Ababa University · ETIstanbul University · TRNational Institute on Population Medical Genetics · BRObafemi Awolowo University · NGUniversity of Iowa · USUniversity of Lagos · NGAustralian National University · AUCentro de Educación Médica e Investigaciones Clínicas Norberto Quirno · ARDr. John T. Macdonald Foundation · USFaculty of Public Health · GBHospital Infantil Universitario Niño Jesús · ESJohns Hopkins University · USNational Center for Epidemiology · HUNational Institute of Environmental Health Sciences · USNational Institutes of Health · USPeking University · CNThe University of Texas Health Science Center at Houston · USUniversidad de Antioquia · CO
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
$7.6MHispanic Clinical and Translational Research Education and Career Development ProgramR25MD007607 · NIMHD · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI Karen G. Martinez Gonzalez, Barbara Segarra-Vazquez · 2012 to 2026
$7.4MMolecular 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
$4.2MIowa CBDRP: Birth Defects Study To Evaluate Pregnancy exposureSU01DD001035 · DD · UNIVERSITY OF IOWA · PI ROMITTI, PAUL A · 2013 to 2017
$3.5MEnvironmental And Genetic Causes Of Birth DefectsZIAES049027 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WILCOX, ALLEN J · 2009 to 2020
$2.6MGenetic instrumental variable studies of maternal risk behaviors for oral cleftsR01DE020895 · NIDCR · UNIVERSITY OF IOWA · PI WEHBY, GEORGE L · 2010 to 2014
$2.5MGENE-ENVIRONMENT INTERACTION IN FACIAL CLEFTSR01DE011948 · NIDCR · UNIVERSITY OF SOUTHERN DENMARK · PI CHRISTENSEN, KAARE · 1998 to 2006
$1.8MHealth outcomes and improved phenotypic characterization of cleft lip and palateR01DD000295 · DD · UNIVERSITY OF IOWA · PI WEHBY, GEORGE L · 2007 to 2009
$1.4MNCBDD CDC HHS R01 DD000295NCBDD CDC HHS U01 DD001035NHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008INIDCR NIH HHS K99 DE022378NIDCR NIH HHS K99 DE024571NIDCR NIH HHS K99 DE025060NIDCR NIH HHS R00 DE022378NIDCR NIH HHS R01 DE009886NIDCR NIH HHS R01 DE011931NIDCR NIH HHS R01 DE011948NIDCR NIH HHS R01 DE014667NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01 DE020895NIDCR NIH HHS R21 DE016877NIDCR NIH HHS R21 DE016930NIDCR NIH HHS R37 DE008559NIDCR NIH HHS U01 DE024425NIMHD NIH HHS R25 MD007607NIMHD NIH HHS U54 MD007587
Abstract
Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these loci do not account for all of the genetic variance of CL/P, we hypothesized the existence of additional risk loci. We conducted a multiethnic GWAS in 6480 participants (823 unrelated cases, 1700 unrelated controls and 1319 case-parent trios) with European, Asian, African and Central and South American ancestry. Our GWAS revealed novel associations on 2p24 near FAM49A, a gene of unknown function (P = 4.22 × 10
Indexed as
Asian PeopleBlack PeopleChromosomes, Human, Pair 17Chromosomes, Human, Pair 19Chromosomes, Human, Pair 2Cleft LipCleft PalateEthnicityFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideRisk Factors
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