| Project/Area Number |
26893094
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Cardiovascular medicine
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| Research Institution | Kanazawa University |
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Principal Investigator |
TADA HAYATO 金沢大学, 大学病院, 助教 (90623653)
|
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| Research Collaborator |
Kathiresan Sekar 米国マサチューセッツ総合病院, ヒトゲノム研究所, 部長
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| Project Period (FY) |
2014-08-29 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 家族性高コレステロール血症 / エクソーム解析 / exome / 網羅的遺伝子解析 |
|---|
| Outline of Final Research Achievements |
We identified a pathogenic mutation in LDL receptor gene, but could not lead to the identification of any novel genes. We conducted an international collaboration, collecting similar cases, leading to conclude that success rate of genetic analysis was ~20%. In addition, we identified a family with de novo mutation in LDL receptor gene, which, was the novel findings at least in the cases with familial hypercholesterolemia in an exome-wide manner.
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