31 86

Cited 0 times in

Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing

 Shinyeop Lee  ;  Hyunsoo Ahn  ;  Hyeonhye Kim  ;  Kwanghwan Lee  ;  Sanguk Kim  ;  Jae Hoon Lee 
 FRONTIERS IN GENETICS, Vol.14 : 1248326, 2023-09 
Journal Title
Issue Date
bioinformatics ; extracellular matrix ; genetic association studies ; genotype-phenotype correlation ; hypodontia
Determining genotype-phenotype correlations in patients with hypodontia is important for understanding disease pathogenesis, although only a few studies have elucidated it. We aimed to identify genetic variants linked to non-syndromic bilateral mandibular second premolar hypodontia in a Korean population for the first time by specifying the phenotype of hypodontia. Twenty unrelated individuals with non-syndromic bilateral mandibular second premolar hypodontia were enrolled for whole-exome sequencing. Using a tooth agenesis gene set panel consisting of 112 genes based on literature, potential candidate variants were screened through variant filtering and prioritization. We identified 13 candidate variants in 12 genes, including a stop-gain variant (c.4750C>T) in LAMA3. Through the functional enrichment analysis of the prioritized genes, several terms related to tooth development were enriched in a protein-protein interaction network of candidate genes for mandibular premolar hypodontia. The hypodontia group also had approximately 2-fold as many mutated variants in all four genes related to these key terms, which are CDH1, ITGB4, LAMA3, LAMB3, as those in the 100 healthy control group individuals. The relationship between enriched terms and pathways and mandibular premolar hypodontia was also investigated. In addition, we identified some known oligodontia variants in patients with hypodontia, strengthening the possibility of synergistic effects in other genes. This genetic investigation may be a worthwhile preliminary attempt to reveal the pathogenesis of tooth agenesis and sets a background for future studies.
Files in This Item:
T202305922.pdf Download
Appears in Collections:
2. College of Dentistry (치과대학) > Dept. of Prosthodontics (보철과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Jae Hoon(이재훈) ORCID logo https://orcid.org/0000-0003-2281-8885
사서에게 알리기


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.