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Identifying genetic variants underlying medication-induced osteonecrosis of the jaw in cancer and osteoporosis: a case control study
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, Kye Hwa | - |
dc.contributor.author | Kim, Su-Hwan | - |
dc.contributor.author | Kim, Chang Hyen | - |
dc.contributor.author | Min, Byung Joo | - |
dc.contributor.author | Kim, Grace Juyun | - |
dc.contributor.author | Lim, Younggyun | - |
dc.contributor.author | Kim, Hun-Sung | - |
dc.contributor.author | Ahn, Kang-Min | - |
dc.contributor.author | Kim, Ju Han | - |
dc.date.accessioned | 2020-03-20T08:28:18Z | - |
dc.date.available | 2020-03-20T17:30:47Z | - |
dc.date.issued | 2019-11-20 | - |
dc.identifier.citation | Journal of Translational Medicine, 17(1):381 | ko_KR |
dc.identifier.issn | 1479-5876 | - |
dc.identifier.uri | 10.1186/s12967-019-2129-3 | - |
dc.identifier.uri | https://hdl.handle.net/10371/164749 | - |
dc.description.abstract | Background
Bisphosphonate-induced osteonecrosis of the jaw (BRONJ) presents with a typical pattern of jaw necrosis in patients who have been prescribed bisphosphonates (BPs) and other antiangiogenetic drugs to treat osteoporosis or bone-related complications of cancer. Methods This study divided 38 patients with BRONJ into two groups according to the prescribing causes: cancer (n = 13) and osteoporosis (n = 25), and underwent whole exome sequencing and compared them with normal controls (n = 90). To identify candidate genes and variants, we conducted three analyses: a traditional genetic model, gene-wise variant score burden, and rare-variant analysis methods. Results The stop-gain mutation (rs117889746) of the PZP gene in the BRONJ cancer group was significantly identified in the additive trend model analysis. In the cancer group, ARIDS, HEBP1, LTBP1, and PLVAP were identified as candidate genes. In the osteoporosis group, VEGFA, DFFA, and FAM193A genes showed a significant association. No significant genes were identified in the rare-variant analysis pipeline. Biologically accountable functions related to BRONJ occurrence-angiogenesis-related signaling (VEGFA and PLVAP genes), TGF-β signaling (LTBP1 and PZP genes), heme toxicity (HEBP1) and osteoblast maturation (ARIDS)-were shown in candidate genes. Conclusion This study showed that the candidate causative genes contributing to the development of BRONJ differ according to the BP dose and background disease. | ko_KR |
dc.description.sponsorship | This work was supported by the Education and Research Encouragement Fund of Seoul National University Hospital and the National Research Foundation of Korea (NRF) funded by the Ministry of Education (NRF2018R1D1A1A02086109). There are no conficts of interest to declare. | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BMC | ko_KR |
dc.subject | Osteoporosis | - |
dc.subject | Angiogenesis | - |
dc.subject | Pharmacogenomics | - |
dc.subject | Bioinformatics | - |
dc.subject | Cancer biology | - |
dc.title | Identifying genetic variants underlying medication-induced osteonecrosis of the jaw in cancer and osteoporosis: a case control study | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 이계화 | - |
dc.contributor.AlternativeAuthor | 김수환 | - |
dc.contributor.AlternativeAuthor | 김창현 | - |
dc.contributor.AlternativeAuthor | 민병주 | - |
dc.contributor.AlternativeAuthor | 임영균 | - |
dc.contributor.AlternativeAuthor | 김훈성 | - |
dc.contributor.AlternativeAuthor | 안강민 | - |
dc.contributor.AlternativeAuthor | 김주한 | - |
dc.citation.journaltitle | Journal of Translational Medicine | ko_KR |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s) | - |
dc.date.updated | 2019-11-24T04:19:15Z | - |
dc.citation.number | 1 | ko_KR |
dc.citation.startpage | 381 | ko_KR |
dc.citation.volume | 17 | ko_KR |
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