2018 Fiscal Year Final Research Report
Exploration of new factors associated with non-syndromic cleft lip and palate using epigenome analysis
| Project/Area Number |
16K20654
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Orthodontics/Pediatric dentistry
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| Research Institution | Showa University |
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Principal Investigator |
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Keywords | 唇顎口蓋裂 / 一卵性双生児 / 遺伝子解析 |
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| Outline of Final Research Achievements |
We compared the entire genome sequence of two pairs of monozygotic (MZ) twins presenting with different type of orofacial clefts.We found no genetic discordance among them. We also confirmed whether the MZ twins and their parents without orofacial clefts have gene variants reported to be associated with the occurrence of orofacial clefts by using conventional Sanger sequencing. Two pairs of MZ twins had a few concordant novel rare variants,respectively. Both a pair of MZ twins had variants in noggin and methylenetetrahydrofolate reductase, and both the other pair of MZ twins had variants in tropomyosin 1 and grainyhead like transcription factor 3. However, only one parent in both pairs had the respective concordant variant for each gene.
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| Free Research Field |
矯正・小児系歯学
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| Academic Significance and Societal Importance of the Research Achievements |
一卵性双生児は基本的に遺伝子情報が同じであるが、一方が疾患に罹患し、もう一方が罹患していない一卵性双生児を対象とした最近の研究から、一卵性双生児においても微妙な遺伝子情報の違いが存在する場合があり、その違いが疾患を引き起こすことが分かってきた。今回、裂型が異なる唇顎口蓋裂を伴う一卵性双生児不一致症例を対象に、世界で初めて全ゲノムシーケンス解析を行った。解析結果から、両者間に遺伝子情報の違いは認められなかったが、唇顎口蓋裂の発症や裂型の多様性には、遺伝的要因だけではなく、エピジェネティクスといった環境的要因が関与している可能性が示唆され、今後の研究の新しい筋道を明確にすることができた。
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