ArticleAmerican journal of human genetics1992
Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 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
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Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 183 citations in OpenAlex.
- Tooth agenesis and orofacial clefting: genetic brothers in arms?Human genetics · 2016Pooled it
- Association between polymorphism of TGFA Taq I and cleft lip and/or palate: a meta-analysis.BMC oral health · 2014Pooled it
- Oral cleft prevention program (OCPP).BMC pediatrics · 2012Trial
- Protective effect ofNagoya journal of medical science · 2024Article
- Epidermal growth factor signalling pathway in endochondral ossification: an evidence-based narrative review.Annals of medicine · 2022Review
- Role of carotenoids and retinoids during heart development.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2020Review
- Comprehensive analysis of differentially expressed profiles of non‑coding RNAs in peripheral blood and ceRNA regulatory networks in non‑syndromic orofacial clefts.Molecular medicine reports · 2019Article
- The Role of the Wnt Signaling Pathway in Upper Jaw Development of Chick Embryo.Acta histochemica et cytochemica · 2019Article
- Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.Birth defects research · 2017Article
- The recurrence risk of genetic complex diseases.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2017Review
- Ectodermal Wnt controls nasal pit morphogenesis through modulation of the BMP/FGF/JNK signaling axis.Developmental dynamics : an official publication of the American Association of Anatomists · 2016Article
- Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate.Frontiers in genetics · 2016Article
- GFA Taq I polymorphism and cleft lip with or without cleft palate (CL/P) risk.International journal of clinical and experimental medicine · 2015Article
- Accelerated wound closure in vitro by fibroblasts from a subgroup of cleft lip/palate patients: role of transforming growth factor-α.PloS one · 2014Article
- Analysis of microsatellite polymorphisms in South Indian patients with non syndromic cleft lip and palate.Balkan journal of medical genetics : BJMG · 2013Article
- Normalized shape and location of perturbed craniofacial structures in the Xenopus tadpole reveal an innate ability to achieve correct morphology.Developmental dynamics : an official publication of the American Association of Anatomists · 2012Article
- Genetics and management of the patient with orofacial cleft.Plastic surgery international · 2012Article
- Tracing disease gene(s) in non-syndromic clefts of orofacial region: HLA haplotypic linkage by analyzing the microsatellite markers: MIB, C1_2_5, C1_4_1, and C1_2_A.Indian journal of human genetics · 2011Article
- Wnt/beta-catenin signaling in oral tissue development and disease.Journal of dental research · 2010Review
- Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.Birth defects research. Part A, Clinical and molecular teratology · 2010Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The first association study of cleft lip with or without cleft palate (CL/P), with candidate genes, found an association with the transforming growth-factor alpha (TGFA) locus. This finding has since been replicated, in whole or in part, in three independent studies. Here we extend our original analysis of the TGFA TaqI RFLP to two other TGFA RFLPs and seven other RFLPs at five candidate genes in 117 nonsyndromic cases of CL/P and 113 controls. The other candidate genes were the retinoic acid receptor (RARA), the bcl-2 oncogene, and the homeobox genes 2F, 2G, and EN2. Significant associations with the TGFA TaqI and BamHI RFLPs were confirmed, although associations of clefting with previously reported haplotypes did not reach significance. Of particular interest, in view of the known teratogenic role of retinoic acid, was a significant association with the RARA PstI RFLP (P = .016; not corrected for multiple testing). The effect on risk of the A2 allele appears to be additive, and although the A2A2 homozygote only has an odds ratio of about 2 and recurrence risk to first-degree relatives (lambda 1) of 1.06, because it is so common it may account for as much as a third of the attributable risk of clefting. There is no evidence of interaction between the TGFA and RARA polymorphisms on risk, and jointly they appear to account for almost half the attributable risk of clefting.
Indexed as
Identifiers
1361101PMC1682912W2166721387What OpenQuestion holds
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.