Dataset Information

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.

SUBMITTER: Pillas D

PROVIDER: S-EPMC2829062 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Pillas Demetris D Hoggart Clive J CJ Evans David M DM O'Reilly Paul F PF Sipilä Kirsi K Lähdesmäki Raija R Millwood Iona Y IY Kaakinen Marika M Netuveli Gopalakrishnan G Blane David D Charoen Pimphen P Sovio Ulla U Pouta Anneli A Freimer Nelson N Hartikainen Anna-Liisa AL Laitinen Jaana J Vaara Sarianna S Glaser Beate B Crawford Peter P Timpson Nicholas J NJ Ring Susan M SM Deng Guohong G Zhang Weihua W McCarthy Mark I MI Deloukas Panos P Peltonen Leena L Elliott Paul P Coin Lachlan J M LJ Smith George Davey GD Jarvelin Marjo-Riitta MR

PLoS genetics 20100226 2

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 ...[more]

PMID: 20195514

Similar Datasets

Project description:Recently, many genome-wide association studies (GWAS) have been conducted to understand the genetic architecture of economic important traits in farm animals. Pig is widely used as a biomedical animal model for its similarity with humans in terms of organ formation and disease mechanisms. Moreover, understanding the mechanisms that underlie the development of internal organs will impact the productive potential of pigs. Our aim was to uncover new single nucleotide polymorphisms (SNPs) associated with the weight of internal organs and carcass and also potential candidate genes.We performed GWAS for the weight of heart, liver, spleen, kidney and carcass on five pig populations (White Duroc × Erhualian F2 intercross, Sutai population, Laiwu population, Erhualian population and commercial population, for a total of 2650 individuals). Genotype data was produced using the PorcineSNP60 Beadchip array. After quality control, the data was used for association tests under a general linear mixed model. Population stratification was adjusted by including a random polygenic effect based on a matrix of genotypic relationships. A meta-analysis of our GWAS datasets was conducted by summing up the Chi square values across breeds, with the degrees of freedom of the Chi square distribution equal to the effective number of breeds.Thirty-nine quantitative trait loci (QTL) located on 15 chromosomes were identified by the single-population GWAS at the suggestive level. Among these, nine QTL surpassed the 5 % genome-wide significance threshold, including four for heart weight on SSC (Sus scrofa chromosome) 2, 4, 7 and 10, two for liver weight on SSC7, two for spleen weight on SSC5 and SSC7 and one for carcass weight on SSC11. The QTL on SSC7 showed pleiotropic effects for heart, liver and spleen weights in the F2 population. In addition, two QTL were detected in several populations, including one on SSC2 for heart weight in the F2 and Sutai populations and one on SSC7 for liver weight in the F2 and Laiwu populations. The meta-analysis detected four novel QTL on SSC1, 3, 8 and 16 for carcass weight.

Dataset Information

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

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets