The isolation of atopy dermatitis association genes based on transepidermal water loss and gene polymorphism of skin barrier association genes

基于经表皮失水和皮肤屏障相关基因多态性的特应性皮炎相关基因分离

• 批准号: 20790268
• 负责人: SASAKI Takashi
• 金额: $ 2.83万
• 依托单位: Keio University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20790268/
• 关键词: 遺伝子診断学; アトピー性皮膚炎; フィラグリン; 経皮水分蒸散量; アトピー; EDC; SPRR2E; LCE1F

In this study, I determined the DNA sequence of skin barrier associated genes (LEP7, hKPRP, LCE1F, SPRR2E) derived from atopy dermatitis patients. As a result, I did not find critical mutations which would cause dysfunction of skin barrier in these genes, however, I decided the frequency of polymorphism of these genes in atopy dermatitis patients. I expect that the comparison these polymorphisms of these gens between atopy dermatitis patients and controls would be clear the relationships among these genes and atopy dermatitis.

本研究测定了特应性皮炎患者皮肤屏障相关基因（LEP7、hKPRP、LCE1F、SPRR2E）的DNA序列。因此，我没有发现这些基因中会导致皮肤屏障功能障碍的关键突变，但我确定了这些基因在特应性皮炎患者中的多态性频率。希望通过对特应性皮炎患者和正常人的这些基因多态性的比较，能够明确这些基因与特应性皮炎的关系。

项目成果

アトピー性皮膚炎原因遺伝子フィラグリンの病因変異簡便検出法の確立と日本人アトピー性皮膚炎患者での解析

建立一种简单的方法来检测引起特应性皮炎的基因丝聚合蛋白的致病性突变，并对日本特应性皮炎患者进行分析

• 发表时间: 2008
• 作者: 佐々木貴史;他10名
• 通讯作者: 他10名

A homozygous frameshift mutation in the murine filaggrin gene facilitates enhanced percutaneous allergen priming.

鼠丝聚合蛋白基因中的纯合移码突变有助于增强经皮过敏原引发。

• 发表时间: 2009
• 期刊: Nature Genetics 41(5)
• 作者: Fallon;P;Sasaki T;Sandilands;A;Campbell;L;Saunders;S;Mangan N;Kawasaki;H;Shiohama;A;Kubo;A;Sundberg;J;Presland;R;Fleckman;P;Shimizu;N;Kudoh;J;Irvine;A;Amagai;M;McLean;WHI.
• 通讯作者: WHI.

Sequence analysis of filaggrin gene by novel shotgun method in Japanese atopic dermatitis

• DOI: 10.1016/j.jdermsci.2008.02.009
• 发表时间: 2008-08-01
• 期刊: JOURNAL OF DERMATOLOGICAL SCIENCE
• 影响因子: 4.6
• 作者: Sasaki, Takashi;Kudoh, Jun;Shimizu, Nobuyoshi
• 通讯作者: Shimizu, Nobuyoshi

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.

• DOI: 10.1038/ng.358
• 发表时间: 2009-05
• 期刊: NATURE GENETICS
• 影响因子: 30.8
• 作者: Fallon, Padraic G.;Sasaki, Takashi;Sandilands, Aileen;Campbell, Linda E.;Saunders, Sean P.;Mangan, Niamh E.;Callanan, John J.;Kawasaki, Hiroshi;Shiohama, Aiko;Kubo, Akiharu;Sundberg, John P.;Presland, Richard B.;Fleckman, Philip;Shimizu, Nobuyoshi;Kudoh, Jun;Irvine, Alan D.;Amagai, Masayuki;McLean, W. H. Irwin
• 通讯作者: McLean, W. H. Irwin