Genome-wide analysis of maxillofacial morphology of 1000 individuals with cephalograms
| Project/Area Number |
18K09844
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 57070:Developmental dentistry-related
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| Research Institution | Kanagawa Dental College (2019-2020)
Showa University (2018) |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
芳賀 秀郷 昭和大学, 歯学部, 講師 (00736655)
高橋 正皓 昭和大学, 歯学部, 講師 (10736713)
冨田 大介 昭和大学, 歯学部, 助教 (40805842)
槇 宏太郎 昭和大学, 歯学部, 教授 (80219295)
中脇 貴俊 昭和大学, 歯学部, 普通研究生 (90783522)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2020: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2019: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 咬合異常 / ヒトゲノム / 顎顔面頭蓋 / セファロ / コーンビームCT / ゲノム解析 / 顎顔面形態 / ゲノム / 一塩基多型 / 側面頭部Ｘ線規格写真 |
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| Outline of Final Research Achievements |
We determined the genetic factors associated with maxillofacial morphology in approximately 1000 East Asian individuals using a “genome-wide association study,” a powerful technique to elucidate the genetic factors of multifactorial inheritance. By conducting the genome-wide association study and target re-sequencing in parallel, we explored genes that are known, as well as those with new or unknown functions. For the single nucleotide polymorphisms (SNPs) identified to be related to the surface facial morphology of other populations, we also performed replication study using the detailed morphological analysis information from a cephalogram (lateral and frontal) and cone-beam CT images of teeth and the maxillofacial region.
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| Academic Significance and Societal Importance of the Research Achievements |
これまでの顎口腔領域に関連した疾患・形質に関与する遺伝因子についての研究は先天性疾患や遺伝子改変動物の表現型、ならびに集団遺伝学の応用に基づく「候補遺伝子関連解析」が実施されてきた。しかし、歯の形態や頭蓋顎顔面形態をはじめとする顎口腔領域に関連した形質のほとんどは多因子形質である。本研究は網羅的ゲノム解析という先進的な研究手法を応用し顎顔面形態に関与する新規の、あるいは機能が明らかにされていない遺伝因子を解明する。遺伝因子の解明は病態の理解、発症リスクの予測（遺伝子診断）あるいは予防法の確立など歯科臨床に寄与する。
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Report
(4 results)
Research Products
(25 results)
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[Journal Article] Three-dimensional assessment of the pharyngeal airway in Japanese preschoolers with orofacial clefts.2020
Author(s)
2)Takahashi M, Yamaguchi T, Lee MK, Suzuki Y, Adel M, Tomita D, Nakawaki T, Yoshida H, Hikita Y, Furuhata M, Tsuneoka M, Nagahama R, Marazita ML, Weinberg SM, Maki K.
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Journal Title
Laryngoscope
Volume: 130
Issue: 2
Pages: 533-540
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Functional analysis of PTH1R variants found in primary failure of eruption.2020
Author(s)
Izumida E, Suzawa T, Miyamoto Y, Yamada A, Takimoto R, Otsu M, Saito T, Yamaguchi T, Nishimura K, Ohtaka M, Nakanishi M, Yoshimura K, Sasa K, Takimoto R, Uyama R, Shirota T, Maki K, Kamijo R.
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Journal Title
Journal of Dental Research
Volume: 99
Issue: 4
Pages: 429-436
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] A three-dimensional analysis of primary failure of eruption in humans and mice.2020
Author(s)
5)Tokavanich N, Gupta A, Nagata M, Takahashi A, Matsushita Y, Yatabe M, Ruellas A, Cevidanes L, Maki K, Yamaguchi T, Ono N, Ono W.
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Journal Title
Oral Dis
Volume: 26
Issue: 2
Pages: 391-400
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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