Title:
GENETIC MARKERS FOR DIAGNOSIS OR PROGNOSIS PREDICTION OF DEGENERATIVE TEMPOROMANDIBULAR JOINT OSTEOARTHRITIS AND USE THEREOF
Document Type and Number:
WIPO Patent Application WO/2023/234659
Kind Code:
A1
Abstract:
The present invention relates to genetic markers for the diagnosis or prognosis prediction of degenerative temporomandibular joint osteoarthritis and use thereof and, more specifically, to use, for the diagnosis or prognosis prediction of temporomandibular joint osteoarthritis, of a mutant protein encoded by: mutation in a gene selected from the group consisting of SMARCA2, NOTCH1, and a combination thereof; or a mutant gene produced by the mutation, and a method therefor. The markers provided by the present invention are closely related to degenerative temporomandibular joint osteoarthritis, and thus exhibit a very significant effect in the diagnosis or prognosis prediction of degenerative temporomandibular joint osteoarthritis. In addition, it is characterized by being capable of diagnosing degenerative temporomandibular joint osteoarthritis or predicting the prognosis thereof through a biological sample, such as saliva, that can be obtained by non-invasive methods. Moreover, unlike conventional cases of diagnosing a disease simply with CT images or/and clinical information (EMR), a random forest-based deep & wide model, which is constructed by a machine learning (deep learning) method taken together with the genetic mutation marker information of the present invention, has excellent diagnostic and predictive abilities with an accuracy of 97%.
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Inventors:
KIM YOON-JI (KR)
BAIK UN-BONG (KR)
KIM WOOK (KR)
LEE KWANG-SIG (KR)
JHA NAYANSI (KR)
BAIK UN-BONG (KR)
KIM WOOK (KR)
LEE KWANG-SIG (KR)
JHA NAYANSI (KR)
Application Number:
PCT/KR2023/007321
Publication Date:
December 07, 2023
Filing Date:
May 26, 2023
Export Citation:
Assignee:
ASAN FOUND (KR)
UNIV ULSAN FOUND IND COOP (KR)
UNIV KOREA RES & BUS FOUND (KR)
UNIV ULSAN FOUND IND COOP (KR)
UNIV KOREA RES & BUS FOUND (KR)
International Classes:
C12Q1/6883; G01N33/68; G16B40/00; G16B40/20
Foreign References:
| KR20220033336A | 2022-03-16 | |||
| JP6004287B2 | 2016-10-05 | |||
| KR20140093991A | 2014-07-29 | |||
| KR20210095483A | 2021-08-02 |
Other References:
BIANCHI JONAS, DE OLIVEIRA RUELLAS ANTÔNIO CARLOS, GONÇALVES JOÃO ROBERTO, PANIAGUA BEATRIZ, PRIETO JUAN CARLOS, STYNER MARTIN, LI: "Osteoarthritis of the Temporomandibular Joint can be diagnosed earlier using biomarkers and machine learning", SCIENTIFIC REPORTS, NATURE PUBLISHING GROUP, US, vol. 10, no. 1, US , XP093116809, ISSN: 2045-2322, DOI: 10.1038/s41598-020-64942-0
LAN LINGLI; JIANG YANGMEI; ZHANG WEINA; LI TING; YING BINBIN; ZHU SONGSONG: "Expression of Notch signaling pathway during osteoarthritis in the temporomandibular joint", JOURNAL OF CRANIO-MAXILLO-FACIAL SURGERY, CHURCHILL LIVINGSTONE, GB, vol. 45, no. 8, 3 June 2017 (2017-06-03), GB , pages 1338 - 1348, XP085138624, ISSN: 1010-5182, DOI: 10.1016/j.jcms.2017.05.029
LAN LINGLI; JIANG YANGMEI; ZHANG WEINA; LI TING; YING BINBIN; ZHU SONGSONG: "Expression of Notch signaling pathway during osteoarthritis in the temporomandibular joint", JOURNAL OF CRANIO-MAXILLO-FACIAL SURGERY, CHURCHILL LIVINGSTONE, GB, vol. 45, no. 8, 3 June 2017 (2017-06-03), GB , pages 1338 - 1348, XP085138624, ISSN: 1010-5182, DOI: 10.1016/j.jcms.2017.05.029
Attorney, Agent or Firm:
LEE, Myoung-Jin (KR)
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