ArticleEuropean journal of oral sciences2012
Further evidence of association of the ABCA4 gene with cleft lip/palate.
Article in European journal of oral sciences, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 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
22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 37 citations in OpenAlex.
- Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.Scientific reports · 2022Pooled it
- Association between 20q12 rs13041247 polymorphism and risk of nonsyndromic cleft lip with or without cleft palate: a meta-analysis.BMC oral health · 2020Pooled it
- Polymorphic Variants of V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B (rs13041247 and rs11696257) and Risk of Non-Syndromic Cleft Lip/Palate: Systematic Review and Meta-Analysis.International journal of environmental research and public health · 2019Pooled it
- A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts.Pediatric discovery · 2026Review
- Association ofGenes · 2025Article
- Testing Reported Associations of Gene Variants with Non-Syndromic Orofacial Clefts in the Polish Population.Biomedicines · 2024Article
- Association of Single-Nucleotide Polymorphisms ofIndian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India · 2022Article
- Association ofInternational journal of environmental research and public health · 2021Article
- Polymorphisms ofLife (Basel, Switzerland) · 2021Review
- Genetic Factors in Nonsyndromic Orofacial Clefts.Global medical genetics · 2020Review
- Environmental mechanisms of orofacial clefts.Birth defects research · 2020Review
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate.Human genetics · 2020Article
- Article
- Dental genetics in Brazil: Where we are.Molecular genetics & genomic medicine · 2018Article
- ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions.Journal of dental research · 2017Article
- Nucleotide variants of the NAT2 and EGF61 genes in patients in Northern China with nonsyndromic cleft lip with or without cleft palate.Medicine · 2017Article
- Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population.BMC medical genetics · 2016Article
- Candidate Gene Analyses of Skeletal Variation in Malocclusion.Journal of dental research · 2015Article
- Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.American journal of medical genetics. Part A · 2014Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Non-syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. Numerous genes and environmental factors, and their interactions, are thought to play a role in the susceptibility to CL/P. A recent genome-wide association study with several populations revealed markers in/near transcription factor vmaf musculoaponeurtoic fibrosarcoma oncogene homolog B (MAFB) and ATP-binding cassette sub-family A member 4 (ABCA4) genes as new susceptibility loci for CL/P. We hypothesized that these genes could also contribute to CL/P in a Brazilian population, and hence we evaluated if the associated single-nucleotide polymorphisms (SNPs) in MAFB (rs13041247 and rs11696257) and ABCA4 (rs560426 and rs481931) were associated with CL/P in our case-control data set. We genotyped 812 Caucasian individuals (400 cases and 412 controls) from Brazil. Allele frequencies were compared for cases and controls as well as for cleft subgroups and controls. ABCA4 rs540426 showed strong associations with CL/P, unilateral and right CL/P, and bilateral CL/P, whereas the SNP rs481931 showed borderline associations with CL/P and bilateral CL/P . No association was found for MAFB. Our results support a potential role for ABCA4 in the etiology of CL/P in individuals from Brazil.
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Registered trials
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.