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The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait

机译:IgA肾病生物库。复杂性状遗传解剖的重要起点

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Background IgA nephropathy (IgAN) or Berger's disease, is the most common glomerulonephritis in the world diagnosed in renal biopsied patients. The involvement of genetic factors in the pathogenesis of the IgAN is evidenced by ethnic and geographic variations in prevalence, familial clustering in isolated populations, familial aggregation and by the identification of a genetic linkage to locus IGAN1 mapped on 6q22–23. This study seems to imply a single major locus, but the hypothesis of multiple interacting loci or genetic heterogeneity cannot be ruled out. The organization of a multi-centre Biobank for the collection of biological samples and clinical data from IgAN patients and relatives is an important starting point for the identification of the disease susceptibility genes. Description The IgAN Consortium organized a Biobank, recruiting IgAN patients and relatives following a common protocol. A website was constructed to allow scientific information to be shared between partners and to divulge obtained data (URL: http://www.igan.net webcite ). The electronic database, the core of the website includes data concerning the subjects enrolled. A search page gives open access to the database and allows groups of patients to be selected according to their clinical characteristics. DNA samples of IgAN patients and relatives belonging to 72 multiplex extended pedigrees were collected. Moreover, 159 trios (sons/daughters affected and healthy parents), 1068 patients with biopsy-proven IgAN and 1040 healthy subjects were included in the IgAN Consortium Biobank. Some valuable and statistically productive genetic studies have been launched within the 5th Framework Programme 1998–2002 of the European project No. QLG1-2000-00464 and preliminary data have been published in "Technology Marketplace" website: http://www.cordis.lu/marketplace webcite . Conclusion The first world IgAN Biobank with a readily accessible database has been constituted. The knowledge gained from the study of Mendelian diseases has shown that the genetic dissection of a complex trait is more powerful when combined linkage-based, association-based, and sequence-based approaches are performed. This Biobank continuously expanded contains a sample size of adequately matched IgAN patients and healthy subjects, extended multiplex pedigrees, parent-child trios, thus permitting the combined genetic approaches with collaborative studies.
机译:背景技术IgA肾病(IgAN)或Berger病是在肾脏活检患者中诊断出的世界上最常见的肾小球肾炎。 IgAN发病机理中遗传因素的参与由患病率的种族和地理差异,孤立人群的家族簇集,家族聚集以及与6q22–23定位的IGAN1基因座的遗传联系证明。这项研究似乎暗示了一个主要的基因座,但是不能排除多个相互作用的基因座或遗传异质性的假说。组织多中心生物库来收集IgAN患者和亲属的生物样品和临床数据是鉴定疾病易感基因的重要起点。描述IgAN联盟组织了一个生物库,按照通用协议招募IgAN患者和亲戚。建立了一个网站,以允许合作伙伴之间共享科学信息并泄露获得的数据(URL:http://www.igan.net webcite)。电子数据库是网站的核心,包括有关入学主题的数据。搜索页面提供对数据库的开放访问,并允许根据患者的临床特征选择患者组。收集了IgAN患者及其亲属的DNA样本,它们属于72个多重扩展谱系。此外,IgAN财团生物库中包括159个三重奏(受儿子/女儿影响的父母和健康父母),1068例经活检证实的IgAN患者和1040例健康受试者。在欧洲项目QLG1-2000-00464的第五个框架计划1998–2002中启动了一些有价值的和具有统计意义的遗传研究,初步数据已在“技术市场”网站上发布: http://www.cordis.lu/marketplace网站。结论已经建立了第一个具有易于访问的数据库的世界IgAN生物库。从孟德尔疾病研究中获得的知识表明,当执行基于链接,基于关联和基于序列的组合方法时,复杂性状的遗传解剖更加强大。该生物库不断扩展,包含足够匹配的IgAN患者和健康受试者,扩展的多重谱系,亲子三重样本的样本量,从而允许将遗传方法与协作研究相结合。

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