IADR Abstract Archives

Genetic Associations of Tooth Agenesis in Central European Sample Group

Objectives: While more than a hundred candidate genes have been suggested to be involved in tooth development in animal models, only a few of them have been confirmed as risk genes for tooth agenesis (TA) in humans. To date, the largest genome-wide association study was performed in an Icelandic population (Jonsson et al. 2018). However, data derived from Central Europeans is lacking. We aimed to evaluate and fine-map genetic associations of the Icelandic population in a Central European sample group.
Methods: Our study group consisted of 55 patients with TA of either maxillary lateral incisors (N=28), canines (N=9), premolars (N=21), molars (N=3) or mandibular incisors (N=12), canines (N=4), premolars (N=37) or molars (N=6); the control group without TA comprised 138 individuals. Genotyping was performed on an Illumina Global Screen Array. Genotype quality control was done using Plink-1.9 and R. SNPs were removed if one of the following conditions was true: significant difference of missing rate (cases vs. controls), call rate<0.95; deviation of Hardy-Weinberg equilibrium (P<1x10-6), minor allele frequency<0.05 (computed separately in cases and controls). Per marker allele dosages were tested for association with oligodontia under a frequentist additive logistic regression model. Analysis was run using SNPTEST.
Results: At marker level, 267’619 variants remained in analysis after QC. After imputation and post-imputation QC, 6'339’646 SNPs were included in final analysis. From this genome-wide data set, we extracted information on TA risk variants detected in the Icelandic population (for TA and for selective TAs). Of the eleven variants detected previously, five variants were available in our dataset. We could confirm that rs35956082-A is significantly associated with agenesis of maxillary lateral incisors (P=0.015), but also with maxillary (P=0.017) and mandibular premolars (P=0.004) in our Central European study group.
Conclusions: Our results contribute to a deeper understanding of genetic architecture of tooth development and disease.

2021 Continental European and Scandinavian Divisions Meeting (Brussels, Belgium, Hybrid)
Brussels, Belgium, Hybrid
2021
0289
Craniofacial Biology Research
  • Safi, Sema  ( University Hospital of Bonn , Bonn , Germany )
  • Gölz, Lina  ( Friedrich-Alexander University Erlangen-Nürnberg , Erlangen , Germany )
  • Weinhold, Leonie  ( University Hospital of Bonn , Bonn , Germany )
  • Daratsianos, Nikolaos  ( University Hospital of Bonn , Bonn , Germany )
  • Fazaal, Julia  ( University of Bonn , Bonn , Germany )
  • Schmid, Matthias  ( University Hospital of Bonn , Bonn , Germany )
  • Jäger, Andreas  ( University Hospital of Bonn , Bonn , Germany )
  • Weider, Matthias  ( Friedrich-Alexander University Erlangen-Nürnberg , Erlangen , Germany )
  • Mangold, Elisabeth  ( University of Bonn , Bonn , Germany )
  • Ludwig, Kerstin  ( University of Bonn , Bonn , Germany )
  • NONE
    Poster Session ALL VIRTUAL
    Orthodontics