229 250

Cited 0 times in

Genetic investigation of bisphosphonate-related osteonecrosis of jaw (BRONJ) via whole exome sequencing and bioinformatics

Authors
 Jee-Hwan Kim  ;  Yong Jae Ko  ;  Ji-young Kim  ;  Yoonsoo Oh  ;  Jihye Hwang  ;  Sangjin Han  ;  Sanguk Kim  ;  Jae-Hoon Lee  ;  Dong-Hoo Han 
Citation
 PLoS One, Vol.10(2) : e0118084, 2015 
Journal Title
 PLoS One 
ISSN
 1932-6203 
Issue Date
2015
Abstract
Complications associated with the use of bisphosphonate (BP) have risen over the years due to an increase in the prescription of BP. 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. While BRONJ afflicts only a minority of patients prescribed with BP, BRONJ is a multigenic disease affected both by environmental and genetic factors having a distinctive phenotype. This study aims to discover genetic biomarkers associated with BRONJ via whole exome sequencing (WES) followed by statistical analysis. Sixteen individuals who had been prescribed with bisphosphonate medication and diagnosed as BRONJ were chosen and each individual's saliva sample was collected for WES. 126 randomized subsamples from the GSK project representing 109 male and 17 female Koreans were used as a control data set. Fisher's exact test was carried out to assess the significance of genetic variants in BRONJ patients. Gene set enrichment analysis (GSEA) (DAVID Bioinformatics Resource 6.7) was used to perform a cluster analysis of variants found from Fisher's exact test. The results from this study suggest that BRONJ-inducing factors are genetically associated and BRONJ occurs due to the malfunctioning of post-translational modification in osteoclast leading to the impairment of cell morphology and adhesion.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/139611
DOI
10.1371/journal.pone.0118084
Appears in Collections:
1. Journal Papers (연구논문) > 5. Research Institutes (연구소) > Oral Science Research Center (구강과학연구소)
1. Journal Papers (연구논문) > 2. College of Dentistry (치과대학) > Dept. of Prosthodontics (보철과학교실)
Yonsei Authors
김지영(Kim, Ji Young) ; 김지환(Kim, Jee Hwan) ; 오윤수(Oh, Yoon Soo) ; 이재훈(Lee, Jae Hoon) ; 한동후(Han, Dong Hoo)
사서에게 알리기
  feedback
Files in This Item:
T201500653.pdf Download
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

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

Browse