| Project/Area Number |
17K11949
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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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| Research Field |
Orthodontics/Pediatric dentistry
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| Research Institution | Fukuoka Dental College |
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Principal Investigator |
KAJII Takashi 福岡歯科大学, 口腔歯学部, 准教授 (60322822)
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| Co-Investigator(Kenkyū-buntansha) |
岡 晃 東海大学, 総合医学研究所, 講師 (80384866)
八田 光世 福岡歯科大学, 口腔歯学部, 教授 (30344518)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 歯科矯正学 / 基礎ゲノム科学 / エクソーム解析 / 骨格性下顎前突症 / 歯学 / ゲノム |
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| Outline of Final Research Achievements |
To explore variants related to mandibular prognathism, we undertook whole-exome sequencing in a Japanese pedigree. The pedigree was ascertained as mandibular prognathism. Four affected individuals across 2 generations and 5 unaffected individuals were chosen for whole-exome sequencing. Five non-synonymous single-nucleotide variants (SNVs) were detected in all 4 affected individuals, but in none of the 5 unaffected individuals. A non-synonymous SNV of the BEST3 gene, Chr12(GRCh37):g.70048878G > T, NM_032735.2:c.1816C > A, p.(L606I), was identified as rare missense variant. BEST3 is located on chromosome 12q15 and encodes bestrophin 3 from the bestrophin family of anion channels. The 4 other non-synonymous SNVs of UBASH3B, OR6M1, OR8D4, and OR8B4 were not considered plausible candidates for mandibular prognathism. Our whole-exome sequencing implicates a rare non-synonymous SNV of BEST3 as a candidate for mandibular prognathism in the Japanese pedigree.
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| Academic Significance and Societal Importance of the Research Achievements |
骨格性下顎前突症の感受性候補遺伝子の１つがBEST3遺伝子であれば、成長期の骨格性下顎前突症患者の試料からこの遺伝子の一塩基変異をPCRにて確認することにより、その患者に下顎骨の爆発的な過成長が成長終了期に認められるかどうかを成長期のうちに判断することが可能になる。言い換えれば、矯正歯科治療の一つである成長のコントロールを成長期に行っても、成長終了期には顎矯正手術が必要となってしまうことを成長期のうちに判断することが可能となる。
これは矯正歯科治療において革新的なことであり、不必要な成長のコントロール治療を回避することが可能となり、国民の健康増進に寄与するものである。
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