ArticleHuman heredity2009
Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.
Article in Human heredity, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
68 citing papers in PubMed, 2 syntheses or guidelines pooled 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
- A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts.Pediatric discovery · 2026Review
- Genetic Associations with Non-Syndromic Cleft Lip/Palate and Dental Caries in Kuwaiti Patients: A Case-Control Study.Dentistry journal · 2026Article
- Mesenchymal stem cells undergoing apoptosis recover cyclophosphamide-induced cleft palate through modulation of NLR signaling mediated pyroptosis.Stem cell research & therapy · 2025Article
- Single cell spatial transcriptomics links Wnt signaling disruption to extracellular matrix development in a cleft palate model.Scientific reports · 2025Article
- 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
- Van der Woude syndrome and amniotic band sequence: A clue to a common genetic etiology? A case report.Genetics and molecular biology · 2025Article
- Bioinformatics for Dentistry: A secondary database for the genetics of tooth development.PloS one · 2024Article
- Ezh2-dependent methylation in oral epithelia promotes secondary palatogenesis.Birth defects research · 2023Article
- 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
- Recent Advances in Nasoalveolar Molding Therapy Using 3D Technology.Craniomaxillofacial trauma & reconstruction · 2022Review
- Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.Annual review of genomics and human genetics · 2022Review
- Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.Scientific reports · 2022Article
- Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.Genetic epidemiology · 2022Article
- Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.PLoS genetics · 2021Article
- Innovative Molecular and Cellular Therapeutics in Cleft Palate Tissue Engineering.Tissue engineering. Part B, Reviews · 2021Review
- Expression Analysis ofBiology · 2021Article
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
8 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
objectivesNon-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P).
methodsWe performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results.
resultsSignificant (multipoint HLOD >or=3.2) or genome-wide-significant (HLOD >or=4.02) linkage results were found for regions 1q32, 2p13, 3q27-28, 9q21, 12p11, 14q21-24 and 16q24. SNPs in IRF6 (1q32) and in or near FOXE1 (9q21) reached formal genome-wide wFDR-adjusted significance. Further, results were phenotype dependent in that the IRF6 region results were most significant for families in which affected individuals have CL alone, and the FOXE1 region results were most significant in families in which some or all of the affected individuals have CL with CP.
conclusionsThese results highlight the importance of careful phenotypic delineation in large samples of families for genetic analyses of complex, heterogeneous traits such as CL/P.
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