FAMILY INVESTIGATION OF NEPHROPATHY AND DIABETES (FIND)

肾病和糖尿病的家庭调查（查找）

• 批准号: 8171719
• 负责人: SUDHA K IYENGAR
• 金额: $ 0.99万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-08-01 至 2011-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8171719
• 关键词: Admixture; African American; American; American Indians; B-Lymphocytes; Biochemical; Biological; Biological Assay; Blood specimen; Chromosomes, Human, Pair 22; Clinical; Computer Retrieval of Information on Scientific Projects Database; Data; Databases; Diabetes Mellitus; Diabetic Nephropathy; Diabetic Retinopathy; End stage renal failure; Ethnic group; European; Family; Family Study; Funding; Future; Genes; Genetic; Genotype; Goals; Grant; Individual; Institution; Investigation; Kidney Diseases; Lead; Linkage Disequilibrium; Logistic Models; Manuscripts; Maps; Measures; Medical; Medical Records; Methods; Mexican Americans; Non-Insulin-Dependent Diabetes Mellitus; Participant; Patient Self-Report; Phase; Phenotype; Plasma; Population; Predisposition; Prevention; Publishing; Questionnaires; Recruitment Activity; Renal function; Reporting; Research; Research Personnel; Resources; Sampling; Scanning; Secure; Source; United States National Institutes of Health; Urine; base; case control; genetic linkage analysis; genetic pedigree; genome wide association study; genome-wide; genome-wide linkage; improved; non-diabetic; programs; repository

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The major goals of the Family Investigation of Nephropathy and Diabetes (FIND) study are to acquire families with well-characterized diabetic nephropathy (DN), as well as unrelated cases and controls, to establish a secure master database, and to localize and identify genes that influence susceptibility to DN and end-stage renal disease (ESRD). FIND has recruited European Americans (EA), African Americans (AA), Mexican Americans (MA) and American Indians (AI) to assess genetic contributions that may be specific to these populations. Analytical strategies include genomewide linkage analysis, genomewide association analysis and mapping by admixture linkage disequilibrium (MALD). In addition, most of the clinical centers conduct a separate sub-study for diabetic retinopathy. During the recruitment phase, the FIND study screened more than 9500 participants. Phenotype data include a self-reported medical questionnaire, a medical record review and biological samples (blood and urine) for biochemical assay. B-lymphocytes, serum, plasma and urine samples have been reserved in a repository for future studies. Data cleaning for this project has relied heavily on the S.A.G.E. programs RELTEST, to verify pedigree relationships, and on MARKERINFO, to identify Mendelian-incompatible genotyping errors. Several genomewide linkage scans using the regression-based approach in the S.A.G.E. program SIBPAL, the conditional logistic model in LODPAL and other methods, was completed in more than 4800 participants from the family study. A report of new linkage regions for type II diabetes mellitus was recently published, and manuscripts reporting new region and confirming previously implicated regions for DN and several measures of kidney function are currently under review. The AA MALD study identified a gene on chromosome 22, MYH9, associated with nondiabetic kidney disease. Identification of genes that influence susceptibility to DN and/or ESRD will lead to a better understanding of how serious kidney disease develops. This should eventually lead to improved treatment and prevention. Currently, the FIND study is completing initial analysis in a genomewide association study on 5200 mainly unrelated individuals from all four ethnic groups.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 肾病和糖尿病家庭调查 (FIND) 研究的主要目标是获取具有明确特征的糖尿病肾病 (DN) 的家庭以及不相关的病例和对照，建立安全的主数据库，并定位和识别影响 DN 和终末期肾病 (ESRD) 易感性的基因。 FIND 招募了欧洲裔美国人 (EA)、非裔美国人 (AA)、墨西哥裔美国人 (MA) 和美洲印第安人 (AI) 来评估这些人群可能特有的遗传贡献。 分析策略包括全基因组连锁分析、全基因组关联分析和混合连锁不平衡（MALD）作图。 此外，大多数临床中心还针对糖尿病视网膜病变进行单独的子研究。 在招募阶段，FIND 研究筛选了超过 9500 名参与者。 表型数据包括自我报告的医学调查问卷、病历审查和用于生化测定的生物样本（血液和尿液）。 B 淋巴细胞、血清、血浆和尿液样本已保存在储存库中以供将来研究。 该项目的数据清理在很大程度上依赖于 S.A.G.E.程序RELTEST，以验证谱系关系，并在MARKERINFO上，以识别孟德尔不兼容的基因分型错误。 在 S.A.G.E. 中使用基于回归的方法进行了几次全基因组连锁扫描。 SIBPAL 程序（LODPAL 和其他方法中的条件逻辑模型）在来自家庭研究的 4800 多名参与者中完成。 最近发表了一份关于 II 型糖尿病新连锁区域的报告，报告新区域并确认先前涉及 DN 区域和肾功能多项指标的手稿目前正在审查中。 AA MALD 研究发现 22 号染色体上的一个基因 MYH9 与非糖尿病肾病相关。 鉴定影响 DN 和/或 ESRD 易感性的基因将有助于更好地了解严重肾脏疾病的发展过程。 这最终应该会导致治疗和预防的改善。 目前，FIND 研究正在完成一项全基因组关联研究的初步分析，该研究涉及来自所有四个种族的 5200 名主要不相关的个​​体。