Dental Caries and Enamelin Haplotype

In the literature, the enamelin gene ENAM has been repeatedly designated as a possible candidate for caries susceptibility. Here, we checked whether ENAM variants could increase caries susceptibility. To this aim, we sequenced coding exons and exon-intron boundaries of ENAM in 250 children with a se...

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Published in:	Journal of dental research Vol. 93; no. 4; pp. 360 - 365
Main Authors:	Chaussain, C., Bouazza, N., Gasse, B., Laffont, A.G., Opsahl Vital, S., Davit-Béal, T., Moulis, E., Chabadel, O., Hennequin, M., Courson, F., Droz, D., Vaysse, F., Laboux, O., Tassery, H., Carel, J.C., Alcais, A., Treluyer, J.M., Beldjord, C., Sire, J.Y.
Format:	Journal Article
Language:	English
Published:	Los Angeles, CA SAGE Publications 01-04-2014 SAGE PUBLICATIONS, INC SAGE Publications (UK and US)
Subjects:	Amino Acid Substitution - genetics Amino acids Arginine - genetics Biodiversity Child Dental caries Dental Caries - genetics Dental Caries Susceptibility - genetics Dentistry Deoxyribonucleic acid DMF Index DNA Enamel Enamelin Environmental factors Exons Exons - genetics Extracellular Matrix Proteins Female Gene frequency Gene Frequency - genetics Genes Genetic Predisposition to Disease - genetics Genetic testing Genetic Variation - genetics Genotype & phenotype Glutamine - genetics Haplotypes Haplotypes - genetics Humans Hypotheses Introns - genetics Isoleucine - genetics Life Sciences Linkage Disequilibrium - genetics Male Mutation Mutation, Missense - genetics Phenotypes Polymorphism, Single Nucleotide - genetics Population Population studies Populations and Evolution Proteins Proteins - genetics Risk factors Single-nucleotide polymorphism Threonine - genetics Young Adult Young adults France polymorphism(s) enamel candidate gene analysis mineralization genetics caries susceptibility
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Summary:	In the literature, the enamelin gene ENAM has been repeatedly designated as a possible candidate for caries susceptibility. Here, we checked whether ENAM variants could increase caries susceptibility. To this aim, we sequenced coding exons and exon-intron boundaries of ENAM in 250 children with a severe caries phenotype and in 149 caries-free patients from 9 French hospital groups. In total, 23 single-nucleotide polymorphisms (SNPs) were found, but none appeared to be responsible for a direct change of ENAM function. Six SNPs had a high minor allele frequency (MAF) and 6 others were identified for the first time. Statistical and evolutionary analyses showed that none of these SNPs was associated with caries susceptibility or caries protection when studied separately and challenged with environmental factors. However, haplotype interaction analysis showed that the presence, in a same variant, of 2 exonic SNPs (rs7671281 and rs3796704; MAF 0.12 and 0.10, respectively), both changing an amino acid in the protein region encoded by exon 10 (p.I648T and p.R763Q, respectively), increased caries susceptibility 2.66-fold independent of the environmental risk factors. These findings support ENAM as a gene candidate for caries susceptibility in the studied population.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0022-0345 1544-0591
DOI:	10.1177/0022034514522060