ArticleHuman genetics2009
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 49 citations in OpenAlex.
- Trial
- Novel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate.Journal of human genetics · 2025Observational
- Epithelial-mesenchymal crosstalk: the scriptwriter of craniofacial morphogenesis.Frontiers in cell and developmental biology · 2024Review
- Genetic associations and parent-of-origin effects of PVRL1 in non-syndromic cleft lip with or without cleft palate across multiple ethnic populations.Epidemiology and health · 2024Article
- Article
- Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2022Article
- Family based and case-control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population.Molecular genetics & genomic medicine · 2021Article
- Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.PLoS genetics · 2021Article
- Environmental mechanisms of orofacial clefts.Birth defects research · 2020Review
- [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate onBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2020Article
- Evidence for germline non-genetic inheritance of human phenotypes and diseases.Clinical epigenetics · 2020Review
- A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.American journal of medical genetics. Part A · 2018Article
- Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.American journal of medical genetics. Part A · 2017Article
- Associations Between TGFA/TGFB3/MSX1 Gene Polymorphisms and Congenital Non-Syndromic Hearing Impairment in a Chinese Population.Medical science monitor : international medical journal of experimental and clinical research · 2016Article
- The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2013Article
- TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.PloS one · 2013Article
- Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.European journal of human genetics : EJHG · 2012Article
- Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.American journal of medical genetics. Part A · 2012Article
- Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate.Birth defects research. Part A, Clinical and molecular teratology · 2012Article
- Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese population.PloS one · 2012Article
Corrections and comments
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Authors and funding
18 authors at 8 institutions in 4 countries.
Funding
Abstract
This study examined the association between markers in transforming growth factor alpha (TGFA) and isolated, non-syndromic cleft lip with/without palate (CL/P) using a case-parent trio design, considering parent-of-origin effects. We also tested for gene-environmental interaction with common maternal exposures, and for gene-gene interaction using markers in TGFA and another recognized causal gene, IRF6. CL/P case-parent trios from four populations (76 from Maryland, 146 from Taiwan, 35 from Singapore, and 40 from Korea) were genotyped for 17 single nucleotide polymorphisms (SNPs) in TGFA. The transmission disequilibrium test was used to test individual SNPs, and the parent-of-origin likelihood ratio test (PO-LRT) was used to assess parent-of-origin effects. We also screened for possible gene-environment interaction using PBAT, and tested for gene-gene interaction using conditional logistic regression models. When all trios were combined, four SNPs showed significant excess maternal transmission, two of which gave significant PO-LRT values [rs3821261: P = 0.004 and OR(imprinting) = 4.17; and rs3771475: P = 0.027 and OR(imprinting) = 2.44]. Haplotype analysis of these two SNPS also supported excess maternal transmission. We saw intriguing but suggestive evidence of G x E interaction for several SNPs in TGFA when either individual SNPs or haplotypes of adjacent SNPs were considered. Thus, TGFA appears to influence risk of CL/P through unconventional means with an apparent parent-of-origin effect (excess maternal transmission) and possible interaction with maternal exposures.
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What 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.