Banner Portal
ENAM gene polymorphisms associated with dental anomalies in individuals with cleft lip and palate
PDF

Keywords

Cleft lip
Cleft palate
Extracellular matrix proteins
Polymorphism
Single nucleotide

How to Cite

1.
Oliveira FV de, Santos CF dos, Dionísio TJ, Neves LT das, Dalben G da S, Ambrosio ECP, et al. ENAM gene polymorphisms associated with dental anomalies in individuals with cleft lip and palate. Braz. J. Oral Sci. [Internet]. 2024 May 3 [cited 2024 May 18];23(00):e241330. Available from: https://periodicos.sbu.unicamp.br/ojs/index.php/bjos/article/view/8671330

Abstract

Aim: This study aimed to investigate the occurrence of enamelin gene (ENAM) single nucleotide polymorphisms (SNP) and ENAM polymorphism association with dental anomalies (DA) in individuals with unilateral or bilateral cleft lip and palate (CLP). Methods: Saliva samples were collected from 147 individuals aged between 6 and 15 years-old, both genders, and divided into 4 groups: Group 1 (G1) - CLP and DA; Group 2 (G2) - CLP without DA; Group 3 (G3) - without CLP with DA; Group 4 (G4) - without CLP and DA. The genomic DNA was extracted from saliva samples and the following ENAM SNPs markers were genotyped: rs3796703, rs3796704, rs3796705, rs7671281, rs2609428, and rs35951442. Fisher exact and Pearson’s Chi-square tests statistically analyzed the results (α=5%). Results: Individuals without CLP with DA (Group 3 - 19.2%) showed statistically higher prevalence of SNP rs2609428 heterozygotes (p=0.006) than individuals with CLP and DA (Group 1 - 0%). Individuals without CLP (10%) exhibited statistically higher prevalence of mutated heterozygotes/homozygous (p=0.028) than in individuals with CLP (1.3%). Conclusion: SNP rs2609428 marker of ENAM gene may be associated with dental anomalies in individuals without cleft lip and palate.

https://doi.org/10.20396/bjos.v23i00.8671330
PDF

References

Li Q, Xu L, Jia X, Saleem K, Zaib T, Sun W, et al. SNPs in folate pathway are associated with the risk of nonsyndromic cleft lip with or without cleft palate, a meta-analysis. Biosci Rep. 2020 Mar;40(3):BSR20194261. doi: 10.1042/BSR20194261.

Shashni R, Goyal A, Gauba K, Utreja AK, Ray P, Jena AK. Comparison of risk indicators of dental caries in children with and without cleft lip and palate deformities. Contemp Clin Dent. 2015 Jan-Mar;6(1):58-62. doi: 10.4103/0976-237X.149293.

Sanghvi R, Vaidyanathan M, Bhujel N. The dental health of cleft patients attending the 18-month-old clinic at a specialised cleft centre. Br Dent J. 2019 Aug;227(3):199-202. doi: 10.1038/s41415-019-0608-9.

Pavlic A, Battelino T, Trebusak Podkrajsek K, Ovsenik M. Craniofacial characteristics and genotypes of amelogenesis imperfecta patients. Eur J Orthod. 2011 Jun;33(3):325-31. doi: 10.1093/ejo/cjq089.

Bei M. Molecular genetics of tooth development. Curr Opin Genet Dev. 2009 Oct;19(5):504-10. doi: 10.1016/j.gde.2009.09.002.

SNPedia. Single Nucleotide Polymorphism. 2019 Feb 11 [cited 2020 Feb 14]. Available from: http://www.snpedia.com/index.php/Single_Nucleotide_Polymorphism.

National Library of Medicine. MedlinePlus. Genetics [home reference]. [cited 2020 Feb 14]. Available from: https://medlineplus.gov/genetics.

Ruiz LA, Maya RR, D'Alpino PH, Atta MT, da Rocha Svizero N. Prevalence of enamel defects in permanent teeth of patients with complete cleft lip and palate. Cleft Palate Craniofac J. 2013 Jul;50(4):394-9. doi: 10.1597/11-200.

Maciel SP, Costa B, Gomide MR. Difference in the prevalence of enamel alterations affecting central incisors of children with complete unilateral cleft lip and palate. Cleft Palate Craniofac J. 2005 Jul;42(4):392-5. doi: 10.1597/02-152.1.

Koruyucu M, Kang J, Kim YJ, Seymen F, Kasimoglu Y, Lee ZH, et al. Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations. J Dent Res. 2018 Aug;97(9):1064-9. doi: 10.1177/0022034518763152.

Oliveira FV, Gurgel CV, Kobayashi TY, Dionísio TJ, Neves LT, Santos CF, et al. Amelogenesis imperfecta and screening of mutation in amelogenin gene. Case Rep Dent. 2014;2014:319680. doi: 10.1155/2014/319680.

Oliveira FV, Dionísio TJ, Neves LT, Machado MA, Santos CF, Oliveira TM. Amelogenin gene influence on enamel defects of cleft lip and palate patients. Braz Oral Res. 2014;28:S1806-83242014000100245. doi: 10.1590/1807-3107bor-2014.vol28.0035

European Bioinformatics Institute. Gene: ENAM ENSG00000132464. E!Ensembl. Archive EnsEMBL release 75; 2014 Feb. [cited 2020 Feb 14]. Available from: http://feb2014.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000132464;r=4:70628744-70686816.

Seymen F, Lee KE, Koruyucu M, Gencay K, Bayram M, Tuna EB, et al. ENAM mutations with incomplete penetrance. J Dent Res. 2014 Oct;93(10):988-92. doi: 10.1177/0022034514548222.

Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A. The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet. 2008 Sep-Oct;51(5):383-408. doi: 10.1016/j.ejmg.2008.05.003.

Malanczuk T, Opitz C, Retzlaff R. Structural changes of dental enamel in both dentitions of cleft lip and palate patients. J Orofac Orthop. 1999;60(4):259-68.doi: 10.1007/BF01299784.

Freitas JA, das Neves LT, de Almeida AL, Garib DG, Trindade-Suedam IK, et al. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP)--Part 1: overall aspects. J Appl Oral Sci. 2012 Feb;20(1):9-15. doi: 10.1590/s1678-77572012000100003.

.

National Library of Medicine. National Center for Biotechnology Information. ENAM enamelin [Homo sapiens (human)]. [cited 2020 Fab 14]. Available from: http://www.ncbi.nlm.nih.gov/gene/10117.

Fincham AG, Moradian-Oldak J, Simmer JP. The structural biology of the developing dental enamel matrix. J Struct Biol. 1999 Jun;126(3):270-99. doi: 10.1006/jsbi.1999.4130.

Hu JC, Hu Y, Lu Y, Smith CE, Lertlam R, Wright JT, et al. Enamelin is critical for ameloblast integrity and enamel ultrastructure formation. PLoS One. 2014 Mar;9(3):e89303. doi: 10.1371/journal.pone.0089303.

Wright JT, Carrion IA, Morris C. The molecular basis of hereditary enamel defects in humans. J Dent Res. 2015 Jan;94(1):52-61. doi: 10.1177/0022034514556708.

Fukae M, Tanabe T, Uchida T, Yamakoshi Y, Shimizu M. Enamelins in the newly formed bovine enamel. Calcif Tissue Int. 1993 Oct;53(4):257-61. doi: 10.1007/BF01320911.

Hu JC, Chun YH, Al Hazzazzi T, Simmer JP. Enamel formation and amelogenesis imperfecta. Cells Tissues Organs. 2007;186(1):78-85. doi: 10.1159/000102683.

Mårdh CK, Bäckman B, Holmgren G, Hu JC, Simmer JP, Forsman-Semb K. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum Mol Genet. 2002 May;11(9):1069-74. doi: 10.1093/hmg/11.9.1069.

Sawada T, Sekiguchi H, Uchida T, Yamashita H, Shintani S, Yanagisawa T. Histological and immunohistochemical analyses of molar tooth germ in enamelin-deficient mouse. Acta Histochem. 2011 Sep;113(5):542-6. doi: 10.1016/j.acthis.2010.05.007.

Witkop CJ Jr. Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis. Oral Surg Oral Med Oral Pathol. 1967 Feb;23(2):174-82. doi: 10.1016/0030-4220(67)90092-8.

Wright JT. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A. 2006 Dec;140(23):2547-55. doi: 10.1002/ajmg.a.31358

Siddiqui S, Al-Jawad M. Enamelin directs crystallite organization at the enamel-dentine junction. J Dent Res. 2016 May;95(5):580-7. doi: 10.1177/0022034516632745.

Jeremias F, Koruyucu M, Küchler EC, Bayram M, Tuna EB, Deeley K, Pierri RA, et al. Genes expressed in dental enamel development are associated with molar-incisor hypomineralization. Arch Oral Biol. 2013 Oct;58(10):1434-42. doi: 10.1016/j.archoralbio.2013.05.005.

Daubert DM, Kelley JL, Udod YG, Habor C, Kleist CG, Furman IK, et al. Human enamel thickness and ENAM polymorphism. Int J Oral Sci. 2016 Jun;8(2):93-7. doi: 10.1038/ijos.2016.1.

Gerreth K, Zaorska K, Zabel M, Borysewicz-Lewicka M, Nowicki M. Association of ENAM gene single nucleotide polymorphisms with dental caries in Polish children. Clin Oral Investig. 2016 Apr;20(3):631-6. doi: 10.1007/s00784-016-1743-1.

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Copyright (c) 2024 Fernanda Veronese de Oliveira, Carlos Ferreira dos Santos, Thiago José Dionísio, Lucimara Teixeira das Neves, Gisele da Silva Dalben, Eloá Cristina Passucci Ambrosio, Paula Karine Jorge, Maria Aparecida Andrade Moreira Machado, Thais Marchini Oliveira

Downloads

Download data is not yet available.