ArticleOral diseases2022
Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.
Article in Oral diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Burden of orofacial clefts from 1990-2021 at global, regional, and national levels.Frontiers in pediatrics · 2025Article
- Family-based GWAS for dental class I malocclusion and clefts.BMC oral health · 2024Article
- The presence and distribution of various genes in postnatal CLP-affected palatine tissue.Maxillofacial plastic and reconstructive surgery · 2024Article
- Global, regional and national burden of orofacial clefts from 1990 to 2019: an analysis of the Global Burden of Disease Study 2019.Annals of medicine · 2023Article
- The Risk of Orofacial Cleft Lip/Palate Due to Maternal Ambient Air Pollution Exposure: A Call for Further Research in South Africa.Annals of global health · 2023Article
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Authors and funding
49 authors at 12 institutions in 7 countries.
Funding
Abstract
objectivesCleft lip with/without cleft palate and cleft palate only is congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births worldwide, these orofacial clefts impose significant social and financial burdens on affected individuals and their families. Orofacial clefts have a complex etiology resulting from genetic variants combined with environmental covariates. Recent genome-wide association studies and whole-exome sequencing for orofacial clefts identified significant genetic associations and variants in several genes. Of these, we investigated the role of common/rare variants in SHH, RORA, MRPL53, ACVR1, and GDF11. MATERIALS AND
methodsWe sequenced these five genes in 1255 multi-ethnic cleft lip with/without palate and cleft palate only samples in order to find variants that may provide potential explanations for the missing heritability of orofacial clefts. Rare and novel variants were further analyzed using in silico predictive tools.
resultsNinteen total variants of interest were found, with variant types including stop-gain, missense, synonymous, intronic, and splice-site variants. Of these, 3 novel missense variants were found, one in SHH, one in RORA, and one in GDF11.
conclusionThis study provides evidence that variants in SHH, RORA, MRPL53, ACVR1, and GDF11 may contribute to risk of orofacial clefts in various populations.
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