| Project/Area Number |
18K16807
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 56040:Obstetrics and gynecology-related
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| Research Institution | Nagoya City University |
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Principal Investigator |
Yoshihara Hiroyuki 名古屋市立大学, 医薬学総合研究院(医学), 助教 (30812094)
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| Project Period (FY) |
2018-04-01 – 2023-03-31
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| Project Status |
Completed (Fiscal Year 2022)
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| Budget Amount *help |
¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2019: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 不育症 / 減数分裂 / コヒーシン / ジャポニカアレイ / ゲノムワイド関連解析 / 東北メディカル・メガバンク / 再現性研究 / 胎児染色体数的異常 / 胎児染色体異数性 / 遺伝子多型解析 / 減数分裂特異的遺伝子 / 遺伝子多型 |
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| Outline of Final Research Achievements |
Ageing increases chromosome anueploidy with longer arrest periods, with chromosome partitioning errors of less than 1% in somatic cell division occurring in 10-30% of oocytes. A genetic polymorphism analysis was performed for meiosis-specific genes, but no significant SNPs were found and a comprehensive analysis was performed. A total of 660,000 SNPs were typed in 192 patients with fetal chromosome aneuploidy. A χ-square test was performed with 1157 Japanese references and the SNV with the most significant association, rs7908491 (P=1.06E-06, OR=1.72), was reported as a splicing QTL for the MEIG1 gene, a meiosis-related factor and most likely associated with chromosome aneuploidy. It was considered to be most likely associated with chromosome aneuploidy.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究の目的である胎児染色体数的異常の関連遺伝子を同定することにより、不育症のrisk alleleが見つかることが予測される。「流産しやすい体質」についての遺伝カウンセリングを提供することができる。流産しやすい体質だと分かれば早めの出産を検討するなど、流産リスクを知ることにより、女性がライフプランを考えるためのbiomarkerとして貢献する波及効果が期待できる。ここに本研究の創造性があり、妊娠の高年齢化した日本だけでなく世界中に貢献できると考えている。また、関連遺伝子の同定は将来的には新たな不育症の治療・予防法の開発につながる。
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