The research on the clinical characters of malignant neoplasm andthe origin of the causative-gene mutation in Werner's syndrome.

维尔纳综合征恶性肿瘤临床特征及致病基因突变起源的研究。

• 批准号: 21590755
• 负责人: TAKEUCHI Fujio
• 金额: $ 3.16万
• 依托单位: The University of Tokyo
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2009
• 资助国家: 日本
• 起止时间: 2009 至 2011
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21590755/
• 关键词: ウエルナー症候群; 症例報告; データーベース; 発癌; 民族差; WRN遺伝子; ハプロタイプ; 変異起源; 重複癌; 多型

The clinical characters of the malignant neoplasm caused by the causative gene of Werner's syndrome and the origin of the mutation of the gene were investigated. The database(WELTAC1) was constituted of case-reports in Japan. Several cases showed neither consanguineous marriage nor familial history, and it indicates these two items are not suitable as mandatory fields for the diagnosis of the disease. The estimated-frequencies of gastric cancer, lung cancer, breast cancer, et al., and the estimated-age of onset for mesenchymal tumors were almost equal to those in general population. Fifteen cases in 20 cases of multiple neoplasm showed non-epithelial neoplasm. The SNP analysis revealed the ethnical differences in haplotype distribution and it would be relevant to the origin of the mutation of causative gene.

探讨了由沃纳氏综合征致病基因引起的恶性肿瘤的临床特点及该基因突变的来源。数据库（WELTAC1）由日本的病例报告组成。少数病例既无近亲婚姻，也无家族史，提示这两项不适合作为本病诊断的必填项。胃癌、肺癌、乳腺癌等的估计频率和间充质肿瘤的估计发病年龄与一般人群几乎相等。20例多发肿瘤中15例为非上皮性肿瘤。SNP分析揭示了单倍型分布的种族差异，这可能与致病基因突变的起源有关。

项目成果

Clinical features of 2 diabetes mellitus patients with high tissue level mitochondrial DNA A3243G mutation. 5th The Society for Free Radical Research-Asia, 8th The Asian Society for Mitochondrial Research and Medicine

组织水平线粒体 DNA A3243G 高突变 2 型糖尿病患者的临床特征

• 发表时间: 2011
• 作者: Harihara S;Takeuchi F(他5名、1;6番目)
• 通讯作者: 6番目)

HERC1 polymorphisms : population-specific variations in haplotype composition

HERC1 多态性：单倍型组成的群体特异性变异

• 发表时间: 2009
• 期刊: Cell Biochemistry and Function 27
• 作者: 橘 隆一;藤江幸一;蒲原弘継;後藤尚弘;角谷徹仁;Yuasa I.
• 通讯作者: Yuasa I.

No association of CTGF*-945G/C dimorphism in Thai patients with Systemic Sclerosis

泰国系统性硬化症患者中 CTGF*-945G/C 二态性无关联

• 发表时间: 2010
• 作者: Louthrenoo W;Takeuchi F(他6名、8番目)
• 通讯作者: Takeuchi F(他6名、8番目)

A Japanese-specific allele in the GALNT11 gene.

• DOI: 10.1016/j.legalmed.2010.04.001
• 发表时间: 2010-07
• 期刊: Legal medicine
• 影响因子: 1.5
• 作者: I. Yuasa;K. Umetsu;Aya Matsusue;H. Nishimukai;S. Harihara;Y. Fukumori;N. Saitou;F. Jin;P. K. Chattopadhyay;L. Henke;J. Henke

Possible Genetic Association of HLA-A*2601 and B*39 with Ocular Behcet's Disease in Japan.

HLA-A*2601 和 B*39 与日本眼部白塞病的可能遗传关联。

• 发表时间: 2009
• 作者: Kaburaki T;Takamoto M;Numaga J;Kawashima H;Araie M;Ohnogi Y;Harihara S;Kuwata S;Takeuchi F
• 通讯作者: Takeuchi F