Familial IgA Nephropathy: Genetic and Metabolic Studies

家族性 IgA 肾病：遗传和代谢研究

• 批准号: 7008078
• 负责人: JIRI F MESTECKY
• 金额: $ 134.71万
• 依托单位: UNIVERSITY OF ALABAMA AT BIRMINGHAM
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-06-15 至 2008-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7008078
• 关键词: IgA nephropathy; clinical research; family genetics; glomerulonephritis; patient oriented research

IgA nephropathy (IgAN) is the most common primary glomerulonephritis in the world. Because of its frequently unfavorable cou7rse and lack of specific therapy, IgAN represents a serious healthy care and economic problem. The overall objective of the proposed Program Project is to determine the genetic and molecular basis of this common disease through integrated studies of patients with IgAN or Henoch-Schonlein purpura (HSP), commonly considered the systemic form of the disease process causing IgAN. We will enroll 20 multiplex families with 50 member5s afflicted with IgAN or HSP and 150 other family members; 150 Caucasian patients with sporadic IgAN (no affected relatives) and 375 of their family members, 50 patients with HSP and 125 of their relatives, 50 African-American patients with IgAN and 200 family members, 50 patients with non-IgAN glomerulonephritis, and 200 Caucasians and 100 African-Americans as health controls. This proposal is based on novel findings generated in the laboratories of the participating investigators, with respect to genetic, biosynthetic, and metabolic studies of IgA molecules, immune complexes, and relevant receptors involved in IgA catabolism. The Program Project consists of three component research project and two core facilities: Project 1: Genetic Studies of IgA Nephropathy Project 2: Biosynthesis and Glycosylation of IgA1 Molecules in IgA Nephropathy Project 3: Immune Complexes and Mesangial Cells in IgA Nephropathy Core A: Clinical Resources and Biostatistics Core B: Administrative The results generated through extensive collaboration among the participating investigators are likely to provide information concerning the genetic and molecular defects characteristic of IgAN, identify mechanisms of the pathogenesis of this disease, and ultimately provide a basis to develop rational therapeutic approaches.

IgA 肾病（IgAN）是世界上最常见的原发性肾小球肾炎。由于 IgAN 的病程经常不利且缺乏特异性治疗，IgAN 代表了严重的健康护理和经济问题。拟议项目的总体目标是通过对 IgAN 或过敏性紫癜 (HSP) 患者的综合研究来确定这种常见疾病的遗传和分子基础，通常被认为是引起 IgAN 的疾病过程的系统形式。 我们将招募20个多重家庭，其中50名成员患有IgAN或HSP，以及150名其他家庭成员； 150 名散发性 IgAN 白人患者（无受影响亲属）及其 375 名家庭成员、50 名 HSP 患者及其 125 名亲属、50 名非裔美国 IgAN 患者及其 200 名家庭成员、50 名非 IgAN 肾小球肾炎患者和 200 名患者白种人和 100 名非裔美国人作为健康控制者。该提案基于参与研究人员实验室的新发现，涉及 IgA 分子、免疫复合物和参与 IgA 分解代谢的相关受体的遗传、生物合成和代谢研究。该项目由三个组成部分的研究项目和两个核心设施组成： 项目 1：IgA 肾病的遗传学研究 项目 2：IgA 肾病中 IgA1 分子的生物合成和糖基化 项目 3：IgA 肾病中的免疫复合物和系膜细胞 核心 A：临床资源和生物统计学核心 B：行政 通过参与研究人员之间的广泛合作产生的结果可能提供有关遗传和分子缺陷特征的信息IgAN 的研究，确定该疾病的发病机制，并最终为开发合理的治疗方法提供基础。

项目成果

IgA nephropathy: current views of immune complex formation.

IgA 肾病：免疫复合物形成的当前观点。

• 发表时间: 2007
• 作者: Mestecky, Jiri;Suzuki, Hitoshi;Yanagihara, Takeshi;Moldoveanu, Zina;Tomana, Milan;Matousovic, Karel;Julian, Bruce A;Novak, Jan
• 通讯作者: Novak, Jan

Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study.

意大利人群中原发性肾小球肾炎的家族聚集：Valtrompia 研究。

• 发表时间: 2006-03
• 影响因子: 19.6
• 作者: Izzi, C;Sanna;Prati, E;Belleri, R;Remedio, A;Tardanico, R;Foramitti, M;Guerini, S;Viola, B F;Movilli, E;Beerman, I;Lifton, R;Leone, L;Gharavi, A;Scolari, F
• 通讯作者: Scolari, F