Variant Analyses of Candidate Genes in Orofacial Clefts in Multi-Ethnic Populations

Simple item page
dc.contributor.authorLi, M.
dc.contributor.authorOlotu, J.
dc.contributor.authorBuxo-Martinex, C.J.
dc.contributor.authorMossey, P.A.
dc.contributor.authorAnand, D.
dc.contributor.authorBusch, T.
dc.contributor.authorAlade, A.
dc.contributor.authorGowan, L.J.J.
dc.contributor.authorEshete, M.
dc.contributor.authorAdeyemo, W.L.
dc.contributor.authorNaicker, T.
dc.contributor.authorAwotoye, W.O.
dc.contributor.authorAdamson, O.O.
dc.contributor.authorJames, O.
dc.contributor.authorOgunlewe, M.O.
dc.contributor.authorMarazita, M.L.
dc.contributor.authorAdeyemo, A.A.
dc.contributor.authorMurray, J.C.
dc.contributor.authorButali, A.
dc.date.accessioned2021-06-07T08:56:39Z
dc.date.available2021-06-07T08:56:39Z
dc.date.issued2021-06-01
dc.descriptionScholarly articlesen_US
dc.description.abstractObjectives Cleft lip with/without cleft palate and cleft palate only are congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births world-wide, 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 Methods We 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. Results 19 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. Conclusion This study provides evidence that variants in SHH, RORA, MRPL53, ACVR1, and GDF11 may contribute to risk of orofacial clefts in various populations.en_US
dc.identifier.citationLi M, Olotu J, Buxo-Martinez CJ, Mossey PA, Anand D, Busch T, Alade A, Gowans LJJ, Eshete M, Adeyemo WL, Naicker T, Awotoye WO, Gupta S, Adeleke C, Bravo V, Huang S, Adamson OO, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Petrin A, Malloy H, Elhadi K, James O, Ogunlewe MO, Abate F, Hailu A, Mohammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Obiri-Yeboah S, Arthur FKN, Oti AA, Donkor P, Marazita ML, Lachke SA, Adeyemo AA, Murray JC, Butali A. Variant Analyses of Candidate Genes in Orofacial Clefts in Multi-Ethnic Populations. Oral Dis 2021. https://doi.org/10.1111/odi.13932.en_US
dc.identifier.otherhttps://doi.org/10.1111/odi.13932
dc.identifier.urihttps://ir.unilag.edu.ng/handle/123456789/9448
dc.language.isoenen_US
dc.publisherWileyen_US
dc.subjectVariant analysisen_US
dc.subjectCandidate genesen_US
dc.subjectOrofacial cleftsen_US
dc.subjectMultiethnic populationen_US
dc.subjectResearch Subject Categories::ODONTOLOGYen_US
dc.titleVariant Analyses of Candidate Genes in Orofacial Clefts in Multi-Ethnic Populationsen_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Li et al 2021.docx
Size:
13.23 KB
Format:
Microsoft Word XML
Description:
Research Article
Download
License bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Oral and Maxillofacial Surgery - Scholarly Publications