| Budget Amount *help |
¥17,290,000 (Direct Cost: ¥13,300,000、Indirect Cost: ¥3,990,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2017: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2016: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2015: ¥6,630,000 (Direct Cost: ¥5,100,000、Indirect Cost: ¥1,530,000)
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| Outline of Final Research Achievements |
We performed genome-wide and epigenome-wide association studies in narcolepsy, identifying that a SNP and a DNA methylation probe in the CCR3 gene region were associated with narcolepsy. meQTL was identified through a significant association between the SNP and the DNA methylation probe. Expression levels of the CCR3 were significantly lower in patients with narcolepsy than in controls. A polygenic analysis using genome-wide SNP data revealed that patients with HLA-DQB1*06:02-positive essential hypersomnia (EHS) were estimated to possess higher shared genetic background to narcoleptic patients. In addition, we found a significant association between HLA-DQB1*06:02-negative EHS and a SNP in the CRAT gene region, and succinylcarnitine as a candidate biomarker for HLA-DQB1*06:02-negative EHS.
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