시스템 생물 정보학을 이용한 구강질환 환자의 유전자 변이 분석
- Publication date
- Publisher
- 포항공과대학교
Abstract
DoctorOral diseases are a frequently occurring disease linked to multi-factorial
traits with various environmental and genetic causalities and no known concrete
pathogenesis. Hereditary gingival fibromatosis (HGF) is one of the oral disease
affected by genetic factors. Peri-implantitis is one of the famous gum diseases.
The varying severity of Peri-implantitis among patients with relatively similar
environments suggests a genetic aspect which needs to be investigated to understand
and regulate the pathogenesis of the disease. BP-related osteonecrosis of
jaw (BRONJ), one of the complications linked to the consumption of BP, greatly
affects patients with minor dental trauma, incurring a long healing period. Our
study aims to identify genetic variants associated with oral diseases by applying
whole-exome sequencing (WES) and bioinformatics analyses such as gene set
enrichment analysis and protein functional association network study. For this study, patients and unrelated individuals had relatively healthy lifestyles, with
minimal environmental causalities affecting oral diseases were chosen for genome
sequencing. Fisher’s exact test was carried out to assess the significance of genetic
variants in oral disease patients group. Gene set enrichment analysis and
functional association analysis among genetically altered genes were used to reveal
related functions. The results from this study suggest that each oral diseases
are genetically associated molecular functions