| Project/Area Number |
22591229
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Juntendo University |
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Principal Investigator |
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2012: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2011: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2010: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 円形脱毛症 / ゲノム解析 / マイクロサテライト / SNP / 遺伝子 / HLA / 疾患感受性遺伝子 / ゲノム相関解析 / HLA領域 |
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| Research Abstract |
In this study, we have identified a strong candidate region for alopecia areata on chromosome 6, at around HLA-B locus (OR: 3.21). By detailed genetic analysis of this region using microsatellite markers and SNPs, we could successfully narrow the region to 2 megabase interval (Haida Y, Ikeda S, et al: An association study of Alopecia Areata within the HLA region using microsatellite markers. Immunogenetics, 2013; 65: 553-7.）. We further sequenced this 2 megabase region on 50 alopecia areata cases, and identified a strongly associated haplotype for alopecia areata (OR: 3.75). Moreover, in this region, we have identified multiple mutations and/or polymorphisms in the exons and introns of a gene, that frequently resulted in the formation of stop codon mutations and truncation of gene products. These results indicated that this gene could be a strong susceptible gene for alopecia areata. We are now producing gene modified mice for this gene, and also examining the expression of this candidate gene on the alopecia areata patients’ skin.
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