Studies on the genetic factors, environmental factors and their interactions towards the establishment of genome medicine of rheumatic diseases

遗传因素、环境因素及其相互作用研究，建立风湿病基因组医学

• 批准号: 19390271
• 负责人: TSUCHIYA Naoyuki
• 金额: $ 9.07万
• 依托单位: University of Tsukuba
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2007
• 资助国家: 日本
• 起止时间: 2007 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-19390271/
• 关键词: 全身性エリテマトーデス; 全身性強皮症; 関節リウマチ; 疾患感受性遺伝子; BLK; STAT4; IRF5; TNFAIP3; TNIP1; 遺伝子多型; SNP; ヒトゲノム; 多型; 顕微鏡的多発血管炎; インターフェロン; IL-10; LILRA2; HapMap

In this study, we confirmed association of IRF5, STAT4, BLK, TNFAIP3 and TNIP1 polymorphisms with systemic lupus erythematosus in Japanese. In addition, we found that the genetic contribution of BLK, STAT4 and TNIP1 is greater in Japanese than in Caucasians because of higher risk genotype frequencies. Moreover, we found that IRF5, STAT4 and BLK are also associated with systemic sclerosis, thereby establishing that these genes are shared susceptibility genes to multiple rheumatic diseases both in the Asian and Caucasian populations.

在这项研究中，我们证实了IRF5，STAT4，BLK，TNFAIP3和TNIP1多态性的关联与日语的全身性红斑狼疮的关联。此外，我们发现，由于风险较高的基因型频率，日语中BLK，STAT4和TNIP1的遗传贡献大于高加索人。此外，我们发现IRF5，STAT4和BLK也与全身性硬化有关，从而确定这些基因是亚洲和高加索人群中多种风湿性疾病的共享易感基因。

项目成果

Association of IL-10 receptor 2 (IL10RB) SNP with systemic sclerosis

• DOI: 10.1016/j.bbrc.2008.06.054
• 发表时间: 2008-08-29
• 期刊: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
• 影响因子: 3.1
• 作者: Hikami, Koki;Ehara, Yukikazu;Tsuchiya, Naoyuki
• 通讯作者: Tsuchiya, Naoyuki

Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 region.

• DOI: 10.1186/ar2516
• 发表时间: 2008
• 期刊: Arthritis research & therapy
• 影响因子: 4.9
• 作者: Kawasaki A;Ito I;Hikami K;Ohashi J;Hayashi T;Goto D;Matsumoto I;Ito S;Tsutsumi A;Koga M;Arinami T;Graham RR;Hom G;Takasaki Y;Hashimoto H;Behrens TW;Sumida T;Tsuchiya N
• 通讯作者: Tsuchiya N

C8orf13-BLK領域遺伝子多型と全身性強皮症との関連

C8orf13-BLK区基因多态性与系统性硬皮病的关联

• 发表时间: 2009
• 作者: 伊東郁恵;ほか
• 通讯作者: ほか

Association of TNFAIP3 polymorphism with susceptibility to systemic lupus erythematosus

TNFAIP3多态性与系统性红斑狼疮易感性的关系

• 发表时间: 2009
• 作者: 川崎綾;et al.
• 通讯作者: et al.

Combining effects of polymorphism of tumor necrosis factor α 5'-flanking region and HLA-DRB1 on radiological progression in patients with rheumatoid arthritis

肿瘤坏死因子α 5侧翼区多态性与HLA-DRB1联合对类风湿性关节炎患者放射学进展的影响

• 发表时间: 2009
• 期刊: Mod Rheumatol 19
• 作者: Ichikawa N;Kotake S;Hakoda M;Higami K;Kawasaki A;Furuya T;Nanke Y;Tsuchiya N;Tokunaga K;Kamatani N.
• 通讯作者: Kamatani N.