| Project/Area Number |
18K06441
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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 45050:Physical anthropology-related
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| Research Institution | Mie University |
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Principal Investigator |
YASUKOCHI Yoshiki 三重大学, 地域イノベーション推進機構, 助教 (60624525)
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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 |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2020: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2019: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 高地適応 / EGLN1 / 低圧低酸素 / 自然選択 / ボリビア / アンデス / 全ゲノムシーケンス / アンデス高地集団 / 遺伝的多型 / 生理的多型 |
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| Outline of Final Research Achievements |
In this study, we explored genetic factors contributed to high-altitude adaptation in Bolivian highlanders. After genotypes of four EGLN1 genetic polymorphisms in 99 Bolivian highlanders were determined, we estimated the EGLN1 haplotypes and examined the association with hemoglobin (Hb) levels. The analysis exhibited the significant association between the haplotype frequencies and Hb levels. Our finding indicates that frequencies of haplotype with TGCG motif may have expanded in Andean highlanders. Next, a genome-wide scan was carried out to find signals of positive natural selection, using whole-genome sequence datasets of 25 Bolivians from this study and 432 individuals in other ethnic groups from databases, identifying seven genomic regions. Information on binding sites of transcription factors and histone modification in databases suggested that the regulation of TGFA gene expression may have contributed to high-altitude adaptation in Bolivians.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究から、循環系機能の調節に関係する遺伝子群が、アンデス南米集団の高地適応に寄与してきた可能性が示された。今まで未解明であった南米高地集団の高地適応に関する分子機序の一端を明らかにした点で、この研究成果は学術的意義があるといえる。また、高いHb濃度に関する遺伝要因を明らかにすることは、赤血球増多症などの慢性高山病に対する創薬標的遺伝子同定の一助となる。したがって、本研究成果は循環系疾患等の治療にも貢献し得る点で、社会的意義があるといえる。
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