시스템 생물 정보학을 이용한 구강질환 환자의 유전자 변이 분석

Abstract

Oral 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.