2013 Fiscal Year Final Research Report
FLG2 gene mutations and atopic dermatitis
| Project/Area Number |
24791129
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Dermatology
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| Research Institution | Hokkaido University |
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Principal Investigator |
HASEBE Ikue 北海道大学, 医学(系)研究科(研究院), 客員研究員 (70616341)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | アトピー性皮膚炎 |
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| Research Abstract |
In this study, we performed mutation analysis of the gene encoding filaggrin (FLG) using DNA samples derived from patients with atopic dermatitis. We identified 11 loss-of-function FLG mutations including a novel one and demonstrated that approximately 30% of AD cases carry one or more FLG mutations. Furthermore, we have identified a nonsense mutation in the gene encoding filaggrin 2 (FLG2), which is predicted to have a similar function as filaggrin, using whole-exome sequence analysis. Now the mutation carrier frequency is being analyzed in AD case series.
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[Journal Article] A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris
Author(s)
Ohguchi Y, Nomura T, Suzuki S, Mizuno O, Nomura Y, Nemoto-Hasebe I, Okamoto H, Sandilands A, Akiyama M, McLean WH, Shimizu H
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Journal Title
European Journal of Dermatology
Volume: (in press)
Peer Reviewed
