Genome-Wide Association Study Reveals Multiple Loci Associated with Primary Tooth Development during Infancy

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Pillas, Demetris ; Hoggart, Clive J. ; Evans, David M. ; O'Reilly, Paul F. ; Sipila, Kirsi ; Lahdesmaki, Raija ; Millwood, Iona Y. ; Kaakinen, Marika ; Netuveli, Gopalakrishnan ; Blane, David ; Charoen, Pimphen ; Sovio, Ulla ; Pouta, Anneli ; Freimer, Nelson ; Hartikainen, Anna-Liisa ; Laitinen, Jaana ; Vaara, Sarianna ; Glaser, Beate ; Crawford, Peter ; Timpson, Nicholas J. ; Ring, Susan M. ; Deng, Guohong ; Zhang, Weihua ; McCarthy, Mark I. ; Deloukas, Panos ; Peltonen, Leena ; Elliott, Paul ; Coin, Lachlan J. M. ; Smith, George Davey ; Jarvelin, Marjo-Riitta (2010)
  • Publisher: PUBLIC LIBRARY SCIENCE
  • Journal: PLOS GENETICS, volume 6, issue 2, page e1000856 (issn: 1553-7390, eissn: 1553-7404)
  • Related identifiers: pmc: PMC2829062, doi: 10.1371/journal.pgen.1000856
  • Subject: Genetics and Genomics/Medical Genetics | QH426-470 | Genetics | Research Article | Genetics and Genomics/Cancer Genetics | Genetics and Genomics/Genetics of Disease | Developmental Biology/Organogenesis | Genetics and Genomics/Gene Discovery | Genetics and Genomics/Population Genetics | Public Health and Epidemiology/Epidemiology
    mesheuropmc: stomatognathic diseases | stomatognathic system

Author Summary Genome-wide association studies have been used to identify genetic variants conferring susceptibility to diseases, intermediate phenotypes, and physiological traits such as height, hair color, and age at menarche. Here we analyze the NFBC1966 and ALSPAC birth cohorts to investigate the genetic determinants of a key developmental process: primary tooth development. The prospective nature of our studies allows us to exploit accurate measurements of age at first tooth eruption and number of teeth at one year, and also provides the opportunity to assess whether genetic variants affecting these traits are associated with dental problems later in the life course. Of the genes that we find to be associated with primary tooth development, several have established roles in tooth development and growth, and almost half have proposed links with the development of cancer. We find that one of the variants is also associated with occlusion defects requiring orthodontic treatment later in life. Our findings should provide a strong foundation for the study of the genetic architecture of tooth development, which as well as its relevance to medicine and dentistry, may have implications in evolutionary biology since teeth represent important markers of evolution.
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