| Budget Amount *help |
¥13,260,000 (Direct Cost: ¥10,200,000、Indirect Cost: ¥3,060,000)
Fiscal Year 2021: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2020: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2019: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2018: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
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| Outline of Final Research Achievements |
Genetic analyses (whole genome analysis, whole exome analysis, and genome-wide SNP typing) were performed in patients with multiple system atrophy and normal healthy controls to search for disease susceptibility genes for multiple system atrophy by association studies. Functional analysis was also performed on tissue samples from patients.
As a result, the association with the COQ2 gene was further established by meta-analysis, and the pathogenesis of multiple system atrophy caused by the COQ2 gene variants was investigated. Furthermore, a genome-wide association study identified a novel disease susceptibility gene.
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