title: Common SNPs of AmelogeninX (AMELX) and dental caries susceptibility.
abstract: Genetic approaches have shown that several genes could modify caries susceptibility; AmelogeninX (AMELX) has been repeatedly designated. Here, we hypothesized that AMELX mutations resulting in discrete changes of enamel microstructure may be found in children with a severe caries phenotype. In parallel, possible AMELX mutations that could explain resistance to caries may be found in caries-free patients. In this study, coding exons of AMELX and exon-intron boundaries were sequenced in 399 individuals with extensive caries (250) or caries-free (149) individuals from nine French hospital groups. No mutation responsible for a direct change of amelogenin function was identified. Seven single-nucleotide polymorphisms (SNPs) were found, 3 presenting a high allele frequency, and 1 being detected for the first time. Three SNPs were located in coding regions, 2 of them being non-synonymous. Both evolutionary and statistical analyses showed that none of these SNPs was associated with caries susceptibility, suggesting that AMELX is not a gene candidate in our studied population.
authors.affiliation: UMR 7138, Université Pierre et Marie Curie, 75005 Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Gasse
authors.forename: S
authors.initials: S
authors.lastname: Grabar
authors.forename: A G
authors.initials: AG
authors.lastname: Lafont
authors.forename: L
authors.initials: L
authors.lastname: Quinquis
authors.forename: S
authors.initials: S
authors.lastname: Opsahl Vital
authors.forename: T
authors.initials: T
authors.lastname: Davit-Béal
authors.forename: E
authors.initials: E
authors.lastname: Moulis
authors.forename: O
authors.initials: O
authors.lastname: Chabadel
authors.forename: M
authors.initials: M
authors.lastname: Hennequin
authors.forename: F
authors.initials: F
authors.lastname: Courson
authors.forename: D
authors.initials: D
authors.lastname: Droz
authors.forename: F
authors.initials: F
authors.lastname: Vaysse
authors.forename: O
authors.initials: O
authors.lastname: Laboux
authors.forename: H
authors.initials: H
authors.lastname: Tassery
authors.forename: N
authors.initials: N
authors.lastname: Al-Hashimi
authors.forename: A
authors.initials: A
authors.lastname: Boillot
authors.forename: J C
authors.initials: JC
authors.lastname: Carel
authors.forename: J M
authors.initials: JM
authors.lastname: Treluyer
authors.forename: M
authors.initials: M
authors.lastname: Jeanpierre
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: J Y
authors.initials: JY
authors.lastname: Sire
authors.forename: C
authors.initials: C
authors.lastname: Chaussain
mesh_terms: D000293:Adolescent; D000328:Adult; D053523:Amelogenin / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004245:DMF Index; D003731:Dental Caries / Q000235:genetics*; D003733:Dental Caries Susceptibility / Q000235:genetics*; D003774:Dental Plaque Index; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C507199:AMELX protein, human; D053523:Amelogenin