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Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics

Authors
 J Hwang  ;  Y-L Kim  ;  S Kang  ;  S Kim  ;  S-O Kim  ;  JH Lee  ;  D-H Han 
Citation
 ORAL DISEASES, Vol.23(1) : 102-109, 2017 
Journal Title
 ORAL DISEASES 
ISSN
 1354-523X 
Issue Date
2017
MeSH
Adolescent ; Antigens, CD/genetics ; Carrier Proteins/genetics ; Child ; Exome/genetics* ; Female ; Fibromatosis, Gingival/genetics* ; Genetic Predisposition to Disease/genetics ; Genetic Variation/genetics ; Genome/genetics ; Guanine Nucleotide Exchange Factors/genetics ; Humans ; Male ; Membrane Proteins/genetics ; Pedigree ; Receptor, Insulin/genetics ; Sequence Alignment ; Sequence Analysis, DNA
Keywords
bioinformatics ; fibronectin ; gingival hyperplasia ; hereditary gingival fibromatosis ; whole-exome sequencing
Abstract
OBJECTIVES: Our study aims to identify genetic variants associated with hereditary gingival fibromatosis (HGF) by applying whole-exome sequencing (WES) and bioinformatics analyses such as gene set enrichment analysis (GSEA) and protein functional network study. SUBJECTS AND METHODS: Two affected siblings whose grandparents and parents have normal gingiva were chosen for our investigation. Saliva collected from the patients and their parents were used for WES. GSEA and protein functional network study were performed to find gene groups in a biological coordination which are associated with HGF. RESULTS: Genetic variants for homozygotes and compound heterozygotes were analyzed and translated into 845 genes. The result from protein functional network study showed that these genetic variants were mainly observed in genes affecting fibronectin as well as the immune and autoimmune system. Additionally, three mutated genes in our HGF patients, TMCO1, RIN2, and INSR, were found through human phenotype ontology (HPO) to have potential to contribute to gingival hyperplasia. CONCLUSIONS: Genetic analysis of HGF in this study implicated mutations in fibronectin and the immune system as triggering abnormal gingival fibromatosis.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/odi.12583/abstract
DOI
10.1111/odi.12583
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/22282913/154160
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