title: Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
abstract: Tooth development is a highly heritable process which relates to other growth and developmental processes, and which interacts with the development of the entire craniofacial complex. Abnormalities of tooth development are common, with tooth agenesis being the most common developmental anomaly in humans. We performed a genome-wide association study of time to first tooth eruption and number of teeth at one year in 4,564 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966) and 1,518 individuals from the Avon Longitudinal Study of Parents and Children (ALSPAC). We identified 5 loci at P<5x10(-8), and 5 with suggestive association (P<5x10(-6)). The loci included several genes with links to tooth and other organ development (KCNJ2, EDA, HOXB2, RAD51L1, IGF2BP1, HMGA2, MSRB3). Genes at four of the identified loci are implicated in the development of cancer. A variant within the HOXB gene cluster associated with occlusion defects requiring orthodontic treatment by age 31 years.
authors.affiliation: Department of Epidemiology and Public Health, Imperial College London, London, United Kingdom.
authors.forename: Demetris
authors.initials: D
authors.lastname: Pillas
authors.forename: Clive J
authors.initials: CJ
authors.lastname: Hoggart
authors.forename: David M
authors.initials: DM
authors.lastname: Evans
authors.forename: Paul F
authors.initials: PF
authors.lastname: O'Reilly
authors.forename: Kirsi
authors.initials: K
authors.lastname: Sipilä
authors.forename: Raija
authors.initials: R
authors.lastname: Lähdesmäki
authors.forename: Iona Y
authors.initials: IY
authors.lastname: Millwood
authors.forename: Marika
authors.initials: M
authors.lastname: Kaakinen
authors.forename: Gopalakrishnan
authors.initials: G
authors.lastname: Netuveli
authors.forename: David
authors.initials: D
authors.lastname: Blane
authors.forename: Pimphen
authors.initials: P
authors.lastname: Charoen
authors.forename: Ulla
authors.initials: U
authors.lastname: Sovio
authors.forename: Anneli
authors.initials: A
authors.lastname: Pouta
authors.forename: Nelson
authors.initials: N
authors.lastname: Freimer
authors.forename: Anna-Liisa
authors.initials: AL
authors.lastname: Hartikainen
authors.forename: Jaana
authors.initials: J
authors.lastname: Laitinen
authors.forename: Sarianna
authors.initials: S
authors.lastname: Vaara
authors.forename: Beate
authors.initials: B
authors.lastname: Glaser
authors.forename: Peter
authors.initials: P
authors.lastname: Crawford
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Timpson
authors.forename: Susan M
authors.initials: SM
authors.lastname: Ring
authors.forename: Guohong
authors.initials: G
authors.lastname: Deng
authors.forename: Weihua
authors.initials: W
authors.lastname: Zhang
authors.forename: Mark I
authors.initials: MI
authors.lastname: McCarthy
authors.forename: Panos
authors.initials: P
authors.lastname: Deloukas
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
authors.forename: Paul
authors.initials: P
authors.lastname: Elliott
authors.forename: Lachlan J M
authors.initials: LJ
authors.lastname: Coin
authors.forename: George Davey
authors.initials: GD
authors.lastname: Smith
authors.forename: Marjo-Riitta
authors.initials: MR
authors.lastname: Jarvelin
mesh_terms: D000483:Alleles; D004739:England; D005260:Female; D005387:Finland; D056426:Genetic Loci / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007223:Infant; D015810:Linkage Disequilibrium / Q000235:genetics; D008137:Longitudinal Studies; D008297:Male; D015201:Meta-Analysis as Topic; D036801:Parturition; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014078:Tooth Eruption / Q000235:genetics; D014094:Tooth, Deciduous / Q000254:growth & development*