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Exomic and transcriptomic alterations of hereditary gingival fibromatosis

Authors
 Seong Kyu Han  ;  Jungho Kong  ;  Sanguk Kim  ;  Jae‐Hoon Lee  ;  Dong‐Hoo Han 
Citation
 ORAL DISEASES, Vol.25(5) : 1374-1383, 2019 
Journal Title
 ORAL DISEASES 
ISSN
 1354-523X 
Issue Date
2019
Keywords
TGF-beta signaling ;  hereditary gingival fibromatosis ; multi-omics approach
Abstract
OBJECTIVE: Hereditary gingival fibromatosis (HGF) is a rare oral disease characterized by either localized or generalized gradual, benign, non-hemorrhagic enlargement of gingivae. Although several genetic causes of HGF are known, the genetic etiology of HGF as a non-syndromic and idiopathic entity remains uncertain. SUBJECTS AND METHODS: We performed exome and RNA-seq of idiopathic HGF patients and controls, and then devised a computational framework that specifies exomic/transcriptomic alterations interconnected by a regulatory network to unravel genetic etiology of HGF. Moreover, given the lack of animal model or large-scale cohort data of HGF, we developed a strategy to cross-check their clinical relevance through in silico gene-phenotype mapping with biomedical literature mining and semantic analysis of disease phenotype similarities. RESULTS: Exomic variants and differentially expressed genes of HGF were connected by members of TGF-β/SMAD signaling pathway and craniofacial development processes, accounting for the molecular mechanism of fibroblast overgrowth mimicking HGF. Our cross-check supports that genes derived from the regulatory network analysis have pathogenic roles in fibromatosis-related diseases. CONCLUSIONS: The computational approach of connecting exomic and transcriptomic alterations through regulatory networks is applicable in the clinical interpretation of genetic variants in HGF patients.
Full Text
https://onlinelibrary.wiley.com/doi/full/10.1111/odi.13093
DOI
10.1111/odi.13093
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
Han, Dong Hoo(한동후)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/170346
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