ArticleGenetic epidemiology2017
Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes.
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Article in Genetic epidemiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
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Who cites it
18 citing papers in PubMed.
- Integrated assessment of differentially expressed plasma microRNAs in subtypes of nonsyndromic orofacial clefts.Medicine · 2018Trial
- Trio-based GWAS reveals loci associated with different forms of isolated cleft lip.HGG advances · 2026Article
- Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip.medRxiv : the preprint server for health sciences · 2026Article
- Laterality and Completeness Patterns of Nonsyndromic Clefts in a Multiethnic Cohort.medRxiv : the preprint server for health sciences · 2026Article
- Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.Human genetics · 2023Article
- Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?American journal of medical genetics. Part A · 2023Article
- Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P.Journal of human genetics · 2023Article
- Rare genetic variants inmedRxiv : the preprint server for health sciences · 2023Article
- Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?medRxiv : the preprint server for health sciences · 2023Article
- Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.American journal of human genetics · 2023Article
- Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.Annual review of genomics and human genetics · 2022Review
- Changes in the Transverse Dimension of the Maxillary Arch of 5-Year-Olds Born With UCLP Since the Introduction of Nationwide Guidance.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2022Article
- FAT4 identified as a potential modifier of orofacial cleft laterality.Genetic epidemiology · 2021Article
- Article
- PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate.Birth defects research · 2020Article
- A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.Genetic epidemiology · 2019Article
- Systems genetics of nonsyndromic orofacial clefting provides insights into its complex aetiology.European journal of human genetics : EJHG · 2019Article
Corrections and comments
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Authors and funding
26 authors.
Jenna C CarlsonDepartment of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Jennifer StandleyDepartment of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America.
Aline PetrinDepartment of Orthodontics, College of Dentistry, University of Iowa, Iowa City, Iowa, United States of America.
John R ShafferDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Azeez ButaliDepartment of Oral Pathology, Radiology and Medicine, Dows Institute for Dental Research, College of Dentistry, University of Iowa, Iowa City, Iowa, United States of America.
Carmen J BuxóDental and Craniofacial Genomics Center, School of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico.
Eduardo CastillaCEMIC: Center for Medical Education and Clinical Research, Buenos Aires, Argentina.
Kaare ChristensenDepartment of Epidemiology, Institute of Public Health, University of Southern Denmark, Odense, Denmark.
Frederic W-D DeleyiannisDepartment of Surgery, Plastic and Reconstructive Surgery, University of Colorado School of Medicine, Denver, Colorado, United States of America.
Jacqueline T HechtDepartment of Pediatrics, McGovern Medical School and School of Dentistry UT Health at Houston, Houston, Texas, United States of America.
L Leigh FieldDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Ariuntuul GaridkhuuDivision of Oral and Maxillofacial Surgery, Graduate School of Dentistry, Tohoku University, Sendai, Japan.
Lina M Moreno UribeDepartment of Orthodontics, College of Dentistry, University of Iowa, Iowa City, Iowa, United States of America.
Natsume NagatoDivision of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi-Gakuin University, Nisshin, Japan.
Ieda M OrioliECLAMC (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, Manila, Philippines.
Fernando PolettaCEMIC: Center for Medical Education and Clinical Research, Buenos Aires, Argentina.
Satoshi SuzukiDivision of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi-Gakuin University, Nisshin, Japan.
Alexandre R VieiraDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
George L WehbyDepartment of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, Iowa, United States of America.
Seth M WeinbergDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Terri H BeatyDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America.
Eleanor FeingoldDepartment of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Jeffrey C MurrayDepartment of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America.
Mary L MarazitaDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.
Elizabeth J LeslieDepartment of Human Genetics, Emory University School of Medicine, Emory University, Atlanta, Georgia, United States of America.ORCID 0000-0002-5735-1712
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
$30.0MExtending 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
$6.8MInternational Genetic Epidemiology of Oral CleftsR01DE014581 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2004 to 2013
$6.6MUniversity of Iowa Institutional Training Program in Oral Health ResearchT90DE023520 · NIDCR · UNIVERSITY OF IOWA · PI STEVEN M. LEVY · 2013 to 2026
$5.6MCleft 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
$1.8MInternational Consortium to Identify Genes and Interactions Controlling Oral ClefU01DE018993 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2007 to 2008
$1.6MHuman 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
$1.0MGenetic studies of nonsyndromic clefts in populations of African Descent.R00DE022378 · NIDCR · UNIVERSITY OF IOWA · PI BUTALI, AZEEZ · 2014 to 2016
$747kNCBDD CDC HHS R01 DD000295NHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008INIDCR NIH HHS K99 DE022378NIDCR NIH HHS K99 DE024571NIDCR NIH HHS R00 DE022378NIDCR NIH HHS R00 DE025060NIDCR NIH HHS R01 DE009886NIDCR NIH HHS R01 DE011931NIDCR NIH HHS R01 DE011948NIDCR NIH HHS R01 DE014581NIDCR NIH HHS R01 DE014667NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R21 DE016930NIDCR NIH HHS R37 DE008559NIDCR NIH HHS T90 DE023520NIDCR NIH HHS U01 DE018993NIDCR NIH HHS U01 DE024425NIMHD NIH HHS S21 MD001830
Abstract
Orofacial clefts (OFCs) are common, complex birth defects with extremely heterogeneous phenotypic presentations. Two common subtypes-cleft lip alone (CL) and CL plus cleft palate (CLP)-are typically grouped into a single phenotype for genetic analysis (i.e., CL with or without cleft palate, CL/P). However, mounting evidence suggests there may be unique underlying pathophysiology and/or genetic modifiers influencing expression of these two phenotypes. To this end, we performed a genome-wide scan for genetic modifiers by directly comparing 450 CL cases with 1,692 CLP cases from 18 recruitment sites across 13 countries from North America, Central or South America, Asia, Europe, and Africa. We identified a region on 16q21 that is strongly associated with different cleft type (P = 5.611 × 10
Indexed as
Chromosomes, Human, Pair 16AllelesBrainCleft LipCleft PalateFemaleForkhead Transcription FactorsGenetic LociGenome-Wide Association StudyHumansMalePhenotypePolymorphism, Single NucleotideRacial GroupsRisk FactorsForkhead Transcription FactorsFOXE1 protein, humancomplex traitgene-gene interactiongenetic modifierorofacial cleft
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