{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T04:12:31Z","timestamp":1787803951204,"version":"build-2784847793"},"reference-count":56,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T00:00:00Z","timestamp":1649721600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2021R1C1C1008843"],"award-info":[{"award-number":["2021R1C1C1008843"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2021R1A5A2022318"],"award-info":[{"award-number":["2021R1A5A2022318"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministry of Education","award":["2019R1A6A1A11034536"],"award-info":[{"award-number":["2019R1A6A1A11034536"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Bisphosphonates are antiresorptive and antiangiogenic drugs that prevent and treat bone loss and mineralization in women with postmenopausal osteoporosis and cancer patients. Medication-related osteonecrosis of the jaw (MRONJ) is commonly caused by tooth extraction and dental trauma. Although genetic and pathological studies about MRONJ have been conducted, the pathogenesis of MRONJ still remains unclear. Methods: We aimed to identify genetic variants associated with MRONJ, using whole-exome sequencing (WES). Ten MRONJ patients prescribed bisphosphonates were recruited for WES, and jawbone tissue and blood samples were collected from the patients. Results: The analysis of the WES data found a total of 1866 SNP and 40 InDel variants which are specific to MRONJ. The functional classification assay using Gene Ontology and pathway analysis discovered that genes bearing the MRONJ variants are significantly enriched for keratinization and calcium ion transport. Some of the variants are potential pathogenic variants (24 missense mutations and seven frameshift mutations) with MAF &lt; 0.01. Conclusions: The variants are located in eight different genes (KRT18, MUC5AC, NBPF9, PABPC3, MST1L, ASPN, ATN1, and SLAIN1). Nine deleterious SNPs significantly associated with MRONJ were found in the KRT18 and PABPC3 genes. It suggests that KRT18 and PABPC3 could be MRONJ-related key genes.<\/jats:p>","DOI":"10.3390\/jcm11082145","type":"journal-article","created":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T21:15:35Z","timestamp":1649798135000},"page":"2145","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Identification of Potentially Pathogenic Variants Associated with Recurrence in Medication-Related Osteonecrosis of the Jaw (MRONJ) Patients Using Whole-Exome Sequencing"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5497-1174","authenticated-orcid":false,"given":"Songmi","family":"Kim","sequence":"first","affiliation":[{"name":"Center for Bio Medical Engineering Core Facility, Dankook University, Cheonan 31116, Korea"},{"name":"Department of Microbiology, Dankook University, Cheonan 31116, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9669-4494","authenticated-orcid":false,"given":"Seyoung","family":"Mun","sequence":"additional","affiliation":[{"name":"Center for Bio Medical Engineering Core Facility, Dankook University, Cheonan 31116, Korea"},{"name":"Department of Microbiology, Dankook University, Cheonan 31116, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wonseok","family":"Shin","sequence":"additional","affiliation":[{"name":"NGS Clinical Laboratory, Dankook University Hospital, Cheonan 31116, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6791-2408","authenticated-orcid":false,"given":"Kyudong","family":"Han","sequence":"additional","affiliation":[{"name":"Center for Bio Medical Engineering Core Facility, Dankook University, Cheonan 31116, Korea"},{"name":"Department of Microbiology, Dankook University, Cheonan 31116, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9596-7481","authenticated-orcid":false,"given":"Moon-Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, College of Dentistry, Dankook University, Cheonan 31116, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1016\/j.ijom.2019.04.014","article-title":"Genetic predisposition for medication-related osteonecrosis of the jaws: A systematic review","volume":"48","author":"Pullano","year":"2019","journal-title":"Int. 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