ArticleNature communications2024
High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene.
Abstract read
In one paragraph
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.Human molecular genetics · 2025Pooled it
- Mechanisms underlying disease-causing variants in promoters and enhancers.Nature genetics · 2026Review
- The orofacial cleft risk gene IRF6 is a target gene of SOX9 in cranial neural crest cells.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Next-Generation Sequencing Data and Clinical Features in Patients with Cleft Palate and Tooth Agenesis: A Systematic Literature Review.Dentistry journal · 2026Review
- Article
- A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts.Pediatric discovery · 2026Review
- Article
- Loss of function of the chromatin remodeling geneProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.Human molecular genetics · 2025Article
- Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.American journal of human genetics · 2025Article
- The developmental bases of cleft lip and cleft palate: cellular and molecular mechanisms.Anatomy & cell biology · 2025Review
- Identification of functional non-coding variants associated with orofacial cleft.Nature communications · 2025Article
- Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.Birth defects research · 2025Article
- Article
- A Large Multicenter Brazilian Case-Control Study Exploring Genetic Variations in Interferon Regulatory Factor 6 and the Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.International journal of molecular sciences · 2025Article
- Advanced or delayed? a retrospective study of skeletal maturation in children with a cleft lip and palate.BMC oral health · 2025Article
- Molecular Regulation of Palatogenesis and Clefting: An Integrative Analysis of Genetic, Epigenetic Networks, and Environmental Interactions.International journal of molecular sciences · 2025Review
- 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
- Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.Human mutation · 2025Review
Corrections and comments
- Update of
Authors and funding
30 authors.
Fedik Rahimov *Department of Human Genetics, Genomics Research Center, AbbVie Inc, North Chicago, IL, 60064, USA.ORCID 0000-0001-6519-7404
Pekka Nieminen *Orthodontics, Department of Oral and Maxillofacial Diseases, University of Helsinki, Helsinki, 00014, Finland.ORCID 0000-0003-2109-124X
Priyanka Kumari *Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA, 52242, USA.ORCID 0000-0002-7210-172X
Emma JuuriOrthodontics, Department of Oral and Maxillofacial Diseases, University of Helsinki and Helsinki University Hospital, Helsinki, 00014, Finland.ORCID 0000-0003-3252-9323
Tiit NikopensiusEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, 51010, Estonia.
Kitt ParaisoEnvironmental Genomics and Systems Biology Division, Lawrence Berkeley Laboratories, Berkeley, CA, 94720, USA.
Jakob GermanInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, 00014, Finland.ORCID 0009-0002-1257-7782
Antti KarvanenInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, 00014, Finland.
Mart KalsEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, 51010, Estonia.ORCID 0000-0003-2090-8780
Abdelrahman G ElnahasEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, 51010, Estonia.
Juha KarjalainenInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, 00014, Finland.
Mitja KurkiInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, 00014, Finland.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, 00014, Finland.ORCID 0000-0002-2527-5874
FinnGen
Estonian Biobank Research Team
Arja HeliövaaraCleft Palate and Craniofacial Center, Department of Plastic Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, 00029 HUS, Finland.ORCID 0000-0001-8064-3484
Tõnu EskoEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, 51010, Estonia.
Sakari JukarainenInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, 00014, Finland.ORCID 0000-0001-8169-8954
Priit PaltaEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, 51010, Estonia.ORCID 0000-0001-9320-7008
Andrea GannaInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, 00014, Finland.ORCID 0000-0002-8147-240X
Anjali P PatniDepartment of Oral Health Sciences, University of Washington, Seattle, WA, 98195, USA.ORCID 0000-0002-1745-6552
Daniel MarInstitute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA, 98109, USA.
Karol BomsztykInstitute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA, 98109, USA.
Julie MathieuInstitute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA, 98109, USA.
Hannele Ruohola-BakerDepartment of Oral Health Sciences, University of Washington, Seattle, WA, 98195, USA.ORCID 0000-0002-5588-4531
Axel ViselEnvironmental Genomics and Systems Biology Division, Lawrence Berkeley Laboratories, Berkeley, CA, 94720, USA.ORCID 0000-0002-4130-7784
Walid D FakhouriDepartment of Diagnostic and Biomedical Sciences, School of Dentistry, University of Texas Health Science Center at Houston, Houston, TX, 77054, USA.ORCID 0000-0002-2199-3828
Brian C SchutteDepartment of Microbiology, Genetics and Immunology, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, 48824, USA. schutteb@msu.edu.ORCID 0000-0003-3779-832X
Robert A CornellDepartment of Anatomy and Cell Biology, University of Iowa, Iowa City, IA, 52242, USA. cornellr@uw.edu.ORCID 0000-0003-4207-9100
David P RiceOrthodontics, Department of Oral and Maxillofacial Diseases, University of Helsinki and Helsinki University Hospital, Helsinki, 00014, Finland. david.rice@helsinki.fi.ORCID 0000-0001-9301-3078
Funding
Dissecting the transcriptional network governing differentiation of peridermR01DE023575 · NIDCR · UNIVERSITY OF WASHINGTON · PI CORNELL, ROBERT AARON, SCHUTTE, BRIAN C · 2013 to 2023
$4.3MA Single-Cell Resolution Enhancer Atlas of Craniofacial DevelopmentR01DE028599 · NIDCR · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI VISEL, AXEL · 2019 to 2023
$4.2MGenetic underpinnings of craniofacial disorders explored with spatial sequencingR01DE033016 · NIDCR · UNIVERSITY OF WASHINGTON · PI Robert Aaron Cornell, Julie Mathieu · 2023 to 2026
$2.9MPIXUL-FFPE: High throughput platform for chromatin and DNA sample preparation from formalin fixed paraffin embedded (FFPE) tissue samples- supplement application.R42HG010855 · NHGRI · MATCHSTICK TECHNOLOGIES, INC. · PI BOMSZTYK, KAROL · 2019 to 2022
$2.4MFunctional tests of non-coding DNA variants associated with risk for orofacial clefting.R01DE027362 · NIDCR · UNIVERSITY OF WASHINGTON · PI CORNELL, ROBERT AARON · 2018 to 2022
$2.2MInfluence of Pre-Analytical Factors in Globlastoma MGMT Promoter Methylation Biomarker AssayU01CA246503 · NCI · UNIVERSITY OF WASHINGTON · PI BOMSZTYK, KAROL, ROSTOMILY, ROBERT C · 2020 to 2024
$2.0MModeling of pathological significance of non-coding DNA variants in cis-overlapping motifs of p53 and cMycR15GM122030 · NIGMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI FAKHOURI, WALID D. · 2016 to 2016
$476kThe function of TWIST1 acetylation in cell fate and tissue developmentR21DE033147 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI FAKHOURI, WALID D., XU, JIANMING · 2023 to 2023
$449kDissecting the transcriptional network governing differentiation of peridermR56DE023575 · NIDCR · UNIVERSITY OF IOWA · PI CORNELL, ROBERT AARON · 2018 to 2018
$340kNCI NIH HHS U01 CA246503NHGRI NIH HHS R42 HG010855NIDCR NIH HHS R01 DE023575NIDCR NIH HHS R01 DE027362NIDCR NIH HHS R01 DE028599NIDCR NIH HHS R01 DE033016NIDCR NIH HHS R21 DE033147NIDCR NIH HHS R56 DE023575NIGMS NIH HHS R15 GM122030
Abstract
In Finland, the frequency of isolated cleft palate (CP) is higher than that of isolated cleft lip with or without cleft palate (CL/P). This trend contrasts to that in other European countries but its genetic underpinnings are unknown. We conducted a genome-wide association study in the Finnish population and identified rs570516915, a single nucleotide polymorphism highly enriched in Finns, as strongly associated with CP (P = 5.25 × 10
Indexed as
Cleft PalateGenetic Predisposition to DiseaseGenome-Wide Association StudyInterferon Regulatory FactorsPolymorphism, Single NucleotideAllelesCleft LipEstoniaFemaleFinlandGene FrequencyHumansIncidenceMaleInterferon Regulatory FactorsIRF6 protein, human
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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.