An integrative genomics approach for non-invasive diagnostic biomarkers discovery in IgA nephropathy

用于发现 IgA 肾病非侵入性诊断生物标志物的综合基因组学方法

• 批准号: MR/K01353X/2
• 负责人: Mario Falchi
• 金额: $ 63.2万
• 依托单位: King's College London
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2015
• 资助国家: 英国
• 起止时间: 2015 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MR%2FK01353X%2F2
• 关键词: integrative; genomics; approach; non; invasive

IgAN is the commonest form of glomerulonephritis worldwide. Currently the diagnosis can only be made by kidney biopsy, and a single biopsy provides limited information about the future risk of kidney failure. In addition, since this disease can run in families, there is a need for a test to predict whether relatives of patients might develop the disease. We aim to use genetic analysis, together with clinical measurements and disease markers, such as deglycosylated IgA to develop a way of predicting which patients are at risk of progression and which relatives are at risk of developing the disease.

IGAN是世界上最常见的肾小球肾炎。目前，诊断只能通过肾脏活检来做出，单一活检提供的关于未来肾功能衰竭风险的信息有限。此外，由于这种疾病可以在家庭中传播，因此有必要进行一项测试，以预测患者亲属是否会患上这种疾病。我们的目标是使用基因分析，结合临床测量和疾病标记物，如脱糖免疫球蛋白A，开发一种预测哪些患者有进展风险，哪些亲属有发展疾病风险的方法。

项目成果

PopPAnTe: population and pedigree association testing for quantitative data.

• DOI: 10.1186/s12864-017-3527-7
• 发表时间: 2017-02-10
• 期刊: BMC genomics
• 影响因子: 4.4
• 作者: Visconti A;Al-Shafai M;Al Muftah WA;Zaghlool SB;Mangino M;Suhre K;Falchi M
• 通讯作者: Falchi M