ArticleJournal of medical genetics2010
A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance.
Article in Journal of medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 6 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
97 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Growth factor analysis in children with non-syndromic orofacial clefts: a systematic review.BMC oral health · 2026Pooled it
- Periconceptional use of vitamin A and the risk of giving birth to a child with nonsyndromic orofacial clefts-A meta-analysis.Birth defects research · 2022Pooled it
- Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.Scientific reports · 2022Pooled 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
- Pooled it
- Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.Nature genetics · 2012Pooled it
- Trio-based GWAS reveals loci associated with different forms of isolated cleft lip.HGG advances · 2026Article
- Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk.Human genomics · 2026Article
- Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip.medRxiv : the preprint server for health sciences · 2026Article
- Hypodontia as an extended phenotype in families with nonsyndromic oral clefts: findings from a 39-family clinical cohort.Journal of applied oral science : revista FOB · 2026Observational
- Cleft lip Sidedness and the Association with Additional Congenital Malformations.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Article
- Identification of functional non-coding variants associated with orofacial cleft.Nature communications · 2025Article
- Sidedness in Unilateral Orofacial Clefts: A Systematic Scoping Review.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Article
- Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.Human genetics · 2024Article
- Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.HGG advances · 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
- Review
- Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P.Journal of human genetics · 2023Article
- The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.Oral and maxillofacial surgery · 2023Review
- Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.medRxiv : the preprint server for health sciences · 2023Article
37 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
objectivesTo determine if the anatomical severity of oral clefting affects familial recurrence in a large population based sample. To provide reliable recurrence risk estimates for oral cleft for first, second, and third degree relatives.
designPopulation based cohort study.
settingDenmark.
participants6776 individuals affected with an oral cleft born from 1952 to 2005 and 54 229 relatives.
main outcome measuresRecurrence risk estimates for oral cleft for first, second, and third degree relatives and stratification by severity, specificity, parent of origin effect, and family size for first degree relatives.
resultsFor cleft lip and palate probands we observed recurrence risks for first, second, and third degree relatives of respectively 3.5% (95% CI 3.1% to 4.0%), 0.8% (95% CI 0.6% to 1.0%), and 0.6% (95% CI 0.4% to 0.8%). Individuals affected by the most severe oral cleft had a significantly higher recurrence risk among both offspring and siblings, eg, the recurrence risk for siblings of a proband with isolated bilateral cleft lip with cleft palate was 4.6% (95% CI 3.2 to 6.1) versus 2.5% (95% CI 1.8 to 3.2) for a proband born with a unilateral defect.
conclusionsAnatomical severity does have an effect on recurrence in first degree relatives and the type of cleft is predictive of the recurrence type. Highly reliable estimates of recurrence have been provided for first cousins in addition to more accurate estimates for first and second degree relatives. These results and the majority of prior data continue to support a multifactorial threshold model of inheritance.
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