DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Primary tooth development (number of teeth). The EFO term odontogenesis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: odontogenesis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

D Pillas, CJ Hoggart, DM Evans, PF O'Reilly, K Sipilä, R Lähdesmäki, IY Millwood, M Kaakinen, G Netuveli, D Blane, P Charoen, U Sovio, A Pouta, N Freimer, AL Hartikainen, J Laitinen, S Vaara, B Glaser, P Crawford, NJ Timpson, SM Ring, G Deng, W Zhang, MI McCarthy, P Deloukas, L Peltonen, P Elliott, LJ Coin, GD Smith, MR Jarvelin

TITLE:

Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.

JOURNAL:

PLoS genetics Feb 2010, Vol 6, pp. e1000856

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. PUBMED: 20195514
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