Delerminalion of polymorphisms associated with tuberculosis or asthma.

与结核病或哮喘相关的多态性的确定。

• 批准号: 12470167
• 负责人: HARA Toshiro
• 金额: $ 5.57万
• 依托单位: Kyushu University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2000
• 资助国家: 日本
• 起止时间: 2000 至 2002
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-12470167/
• 关键词: Tuberculosis; allergy; Th1; Th2; IL-4; T-bet; IRF-1; interferon γ; レセプター; アドレナリン受容体; IRF-I

Mycobacterial infectionsIFN-gamma-mediated immunity plays an important role in host defense against ituraceliuiar pathogens, especially mycobacteria. Japanese children with bacille Calmelte-Guerin (BCG) osteomyelitis or recurrent mycobacterial infections were evaluated for mutations of genes involved in IL-I2-dependent, IFN-gamma-mediated immunity. Heterozygous smalt deletions with frameshift (818del4 and 811del4) that are consistent with the diagnosis of partial dominant IFN-gamma receptor 1 deficiency were detected in 3 unrelated patients. This study demonstrated that IFN-gammaR1 gene analysis would be useful in the determination of individuals who are susceptible to mycobacterial infections (J Infect Dis 2002).AsthmaWe investigated the association of Th1/Th2-related molecules and atopic asthma in Japanese population. With regard to IFNG, IFNGR1, IFNGR2, IL-13 receptor, IL-13, FcεR, CD28, CTLA-4, SLAM, histamine receptor 1, 2, and histamine N-methyltransferase genes, no associations were observed. IL-4, IL-4 receptor, and IRF1 genes showed significant associations with atopic asthma. Thus, analysis of IL-4, IL-4 receptor, and IRF1 polymorphisms would be useful in the determination of individuals of atopic asthma (J Allergy Clin Immunol 2000).

分枝杆菌感染IFN-γ介导的免疫在宿主防御自身病原体（尤其是分枝杆菌）中发挥重要作用。研究人员对患有卡介苗（BCG）骨髓炎或复发性分枝杆菌感染的日本儿童进行了 IL-I2 依赖性、IFN-γ 介导免疫相关基因突变的评估。在 3 名不相关的患者中检测到具有移码的杂合 smalt 缺失（818del4 和 811del4），这与部分显性 IFN-γ 受体 1 缺陷的诊断一致。这项研究表明，IFN-gammaR1 基因分析将有助于确定易受分枝杆菌感染的个体（J Infect Dis 2002）。哮喘我们研究了日本人群中 Th1/Th2 相关分子与特应性哮喘的关联。对于 IFNG、IFNGR1、IFNGR2、IL-13 受体、IL-13、FcεR、CD28、CTLA-4、SLAM、组胺受体 1、2 和组胺 N-甲基转移酶基因，未观察到关联。 IL-4、IL-4 受体和 IRF1 基因与特应性哮喘显着相关。因此，IL-4、IL-4受体和IRF1多态性的分析将有助于确定特应性哮喘个体(J Allergy Clin Immunol 2000)。

项目成果

Ahmed S, et al.: "Novel polymorphism in the coding region of IL-13 receptor_' gene : Association study with atopic asthma in the Japanese population"Exp Clin Immunogenet. 17. 18-22 (2000)

Ahmed S 等人：“IL-13 受体基因编码区的新多态性：日本人群中与特应性哮喘的关联研究”Exp Clin Nutrition。

Sasaki Y, et al.: "Genetic basis of patients with Bacille Calmette-Guerin osteomyelitis in Japan : identification of dominant partial interferon-Υ receptor 1 deficiency as a predominant type"J Infect Dis. 185. 706-709 (2002)

Sasaki Y 等人：“日本卡介苗骨髓炎患者的遗传基础：将部分干扰素 Y 受体 1 缺陷识别为主要类型”J Infect Dis. 185. 706-709 (2002)。

原寿郎: "反復感染と免疫不全."ベッドサイドの小児の診かた(印刷中).

Juro Hara：“反复感染和免疫缺陷。”如何在床边检查儿童（正在出版）。

Sasaki Y, et al.: "Lack of association between atopic asthma and polymorphisms of the histamine H1 receptor, histamine H2 receptor and histamine N-methltransferase genes"Immunogenet. 51. 238-240 (2000)

Sasaki Y 等人：“特应性哮喘与组胺 H1 受体、组胺 H2 受体和组胺 N-甲基转移酶基因的多态性之间缺乏关联”Immunogenet。

Mizuno Y, et al.: "Th1 and Th1-inducing cytokine responses in Salmonella infection"Clin Exp Immunol. (in press). (2002)

Mizuno Y 等人：“沙门氏菌感染中的 Th1 和 Th1 诱导细胞因子反应”Clin Exp Immunol。