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

• Published in: PLoS Genetics
• Main Authors: Demetris Pillas, Clive J Hoggart, David M Evans, Paul F O'Reilly, Kirsi Sipilä, Raija Lähdesmäki, Iona Y Millwood, Marika Kaakinen, Gopalakrishnan Netuveli, David Blane, Pimphen Charoen, Ulla Sovio, Anneli Pouta, Nelson Freimer, Anna-Liisa Hartikainen, Jaana Laitinen, Sarianna Vaara, Beate Glaser, Peter Crawford, Nicholas J Timpson, Susan M Ring, Guohong Deng, Weihua Zhang, Mark I McCarthy, Panos Deloukas, Leena Peltonen, Paul Elliott, Lachlan J M Coin, George Davey Smith, Marjo-Riitta Jarvelin
• Format: Article in Journal/Newspaper
• Language: English
• Published: Public Library of Science (PLoS) 2010
• Subjects: Genetics; QH426-470; Northern Finland
• Online Access: https://doi.org/10.1371/journal.pgen.1000856; https://doaj.org/article/3ab82573645d43d58948051fe2d36710

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.