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Rare and Common Variants Conferring Risk of Tooth Agenesis.

L Jonsson1,2, T E Magnusson3, A Thordarson3

  • 11 deCODE genetics/Amgen, Reykjavik, Iceland.

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|January 25, 2018
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Summary
This summary is machine-generated.

This large genome-wide study identified 9 new genetic risk variants for tooth agenesis (TA), a condition of congenitally missing teeth. Five variants are linked to selective TA, enhancing our understanding of dental development genetics.

Keywords:
geneticshypodontiamolecular geneticsodontogenesisoligodontiaorofacial cleft(s)

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Area of Science:

  • Genetics
  • Developmental Biology
  • Oral Health

Background:

  • Tooth agenesis (TA) is a common dental anomaly with complex genetic underpinnings.
  • Previous genetic discoveries for TA were limited, often relying on candidate gene studies.

Purpose of the Study:

  • To identify novel genetic risk variants associated with tooth agenesis (TA) using a large-scale genome-wide association study (GWAS).
  • To investigate the overlap between genetic factors for TA, tooth eruption timing, and orofacial clefts.

Main Methods:

  • Conducted a genome-wide association study including 1,944 individuals with TA and 338,554 controls of European ancestry.
  • Tested previously identified risk variants for tooth eruption and orofacial clefts for association with TA.

Main Results:

  • Identified 9 novel risk variants associated with tooth agenesis.
  • Five of these novel variants were specifically associated with selective tooth agenesis.
  • One identified variant is also a known risk factor for orofacial clefts.

Conclusions:

  • The study expands the known genetic architecture of tooth development and associated anomalies.
  • Findings provide insights into the genetic etiology of tooth agenesis, informing potential interdisciplinary oral rehabilitation strategies.