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Dental caries and enamelin haplotype
- Source :
- Journal of Dental Research, Journal of Dental Research, 2014, 93 (4), pp.360-365. ⟨10.1177/0022034514522060⟩, Journal of Dental Research, SAGE Publications (UK and US), 2014, 93 (4), pp.360-365. ⟨10.1177/0022034514522060⟩
- Publication Year :
- 2014
-
Abstract
- International audience; 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.
- Subjects :
- Male
Threonine
Dental Caries Susceptibility
Glutamine
Population
Mutation, Missense
Single-nucleotide polymorphism
Biology
caries susceptibility
Dental Caries
Arginine
Polymorphism, Single Nucleotide
Linkage Disequilibrium
Exon
Young Adult
Gene Frequency
candidate gene analysis
Humans
mineralization
genetics
Genetic Predisposition to Disease
Isoleucine
education
Child
General Dentistry
Gene
Genetics
education.field_of_study
Extracellular Matrix Proteins
DMF Index
[SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE]
Haplotype
Genetic Variation
Proteins
polymorphism(s)
enamel
Exons
Introns
Minor allele frequency
Amino Acid Substitution
Haplotypes
Female
ENAM
Candidate Gene Analysis
Subjects
Details
- ISSN :
- 15440591 and 00220345
- Volume :
- 93
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Journal of dental research
- Accession number :
- edsair.doi.dedup.....0d6e4293e455dd4d6a2eecb318d23797
- Full Text :
- https://doi.org/10.1177/0022034514522060⟩