Evidence map›Paper›PMID 31747953›Full record

ArticleJournal of translational medicine2019

Identifying genetic variants underlying medication-induced osteonecrosis of the jaw in cancer and osteoporosis: a case control study.

Kye Hwa Lee, Su-Hwan Kim, Chang Hyen Kim, Byung Joo Min, Grace Juyun Kim, Younggyun Lim, Hun-Sung Kim, Kang-Min Ahn, Ju Han Kim

Open access · goldAbstract read
In one paragraph

Article in Journal of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.8field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 34 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 5 institutions in 2 countries.

Kye Hwa LeeCenter for Precision Medicine, Seoul National University Hospital, Seoul, 03082, South Korea.ORCID 0000-0002-7593-7020
Su-Hwan KimDepartment of Periodontics, Asan Medical Center, Seoul, 05505, South Korea.
Chang Hyen KimDepartment of Oral and Maxillofacial Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, 06591, South Korea.
Byung Joo MinDivision of Biomedical Informatics, Seoul National University Biomedical Informatics (SNUBI) and Systems Biomedical Informatics Research Center, Seoul National University College of Medicine, Seoul, 03080, South Korea.
Grace Juyun KimDivision of Biomedical Informatics, Seoul National University Biomedical Informatics (SNUBI) and Systems Biomedical Informatics Research Center, Seoul National University College of Medicine, Seoul, 03080, South Korea.
Younggyun LimDivision of Biomedical Informatics, Seoul National University Biomedical Informatics (SNUBI) and Systems Biomedical Informatics Research Center, Seoul National University College of Medicine, Seoul, 03080, South Korea.
Hun-Sung KimDepartment of Medical Informatics, College of Medicine, The Catholic University of Korea, Seoul, 06591, Republic of Korea.
Kang-Min AhnDepartment of Oral and Maxillofacial Surgery, University of Ulsan College of Medicine, Seoul, 05505, South Korea. ahnkangmin@ulsan.ac.kr.
Ju Han KimCenter for Precision Medicine, Seoul National University Hospital, Seoul, 03082, South Korea. juhan@snu.ac.kr.
Seoul National University · KRUlsan College · KRCatholic University of Korea · KRSeoul National University Hospital · KRThe Catholic University of Korea Seoul St. Mary's Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBisphosphonate-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.

methodsThis 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.

resultsThe 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.

conclusionThis study showed that the candidate causative genes contributing to the development of BRONJ differ according to the BP dose and background disease.

Indexed as

Genetic VariationAdultAgedBisphosphonate-Associated Osteonecrosis of the JawCase-Control StudiesFemaleGene FrequencyGenetic Association StudiesHumansMaleMiddle AgedNeoplasmsOsteoporosisAngiogenesisBioinformaticsCancer biologyOsteoporosisPharmacogenomics

Identifiers

PMID31747953
PMCPMC6868688
OpenAlexW2990776257

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.