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Investigation of Pathogenic Genes in Peri-Implantitis from Implant Clustering Failure Patients: A Whole-Exome Sequencing Pilot Study

 Soohyung Lee  ;  Ji-Young Kim  ;  Jihye Hwang  ;  Sanguk Kim  ;  Jae-Hoon Lee  ;  Dong-Hoo Han 
 PLOS ONE, Vol.9(6) : e99360, 2014 
Journal Title
Issue Date
Cluster Analysis ; Dental Restoration Failure ; Exome/genetics* ; Gene Regulatory Networks ; Humans ; Middle Aged ; Peri-Implantitis/genetics* ; Pilot Projects ; Sequence Analysis, DNA* ; Software
Peri-implantitis is a frequently occurring gum disease linked to multi-factorial traits with various environmental and genetic causalities and no known concrete pathogenesis. 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. Six unrelated individuals with multiple clusterization implant failure due to severe peri-implantitis were chosen for this study. These six individuals had relatively healthy lifestyles, with minimal environmental causalities affecting peri-implantitis. Research was undertaken to investigate pathogenic genes in peri-implantitis albeit with a small number of subjects and incomplete elimination of environmental causalities. Whole-exome sequencing was performed on collected saliva samples via self DNA collection kit. Common variants with minor allele frequencies (MAF) > = 0.05 from all control datasets were eliminated and variants having high and moderate impact and loss of function were used for comparison. Gene set enrichment analysis was performed to reveal functional groups associated with the genetic variants. 2,022 genes were left after filtering against dbSNP, the 1000 Genomes East Asian population, and healthy Korean randomized subsample data (GSK project). 175 (p-value <0.05) out of 927 gene sets were obtained via GSEA (DAVID). The top 10 was chosen (p-value <0.05) from cluster enrichment showing significance of cytoskeleton, cell adhesion, and metal ion binding. Network analysis was applied to find relationships between functional clusters. Among the functional groups, ion metal binding was located in the center of all clusters, indicating dysfunction of regulation in metal ion concentration might affect cell morphology or cell adhesion, resulting in implant failure. This result may demonstrate the feasibility of and provide pilot data for a larger research project aimed at discovering biomarkers for early diagnosis of peri-implantitis.
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2. College of Dentistry (치과대학) > Dept. of Prosthodontics (보철과학교실) > 1. Journal Papers
5. Research Institutes (연구소) > Oral Science Research Center (구강과학연구소) > 1. Journal Papers
Yonsei Authors
Kim, Ji Young(김지영)
Lee, Jae Hoon(이재훈) ORCID logo https://orcid.org/0000-0003-2281-8885
Han, Dong Hoo(한동후)
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