FAMILY INVESTIGATION OF NEPHROPATHY AND DIABETES (FIND)

肾病和糖尿病的家庭调查（查找）

• 批准号: 7956486
• 负责人: SUDHA K IYENGAR
• 金额: $ 0.97万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-08-01 至 2010-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7956486
• 关键词: Admixture; African American; American; American Indians; Archives; B-Lymphocytes; Biochemical; Biological; Biological Assay; Blood specimen; Case-Control Studies; Clinical; Computer Retrieval of Information on Scientific Projects Database; Data; Data Analyses; Databases; Diabetes Mellitus; Diabetic Nephropathy; Diabetic Retinopathy; End stage renal failure; European; Family; Family Study; Funding; Future; Genes; Genetic; Genotype; Goals; Grant; Human Genetics; Individual; Institution; Investigation; Kidney Diseases; Kidney Failure; Lead; Linkage Disequilibrium; Logistic Models; Manuscripts; Maps; Medical; Medical Records; Methods; Mexican Americans; Nature; Nuclear Family; Participant; Patient Self-Report; Phase; Phenotype; Plasma; Population; Predisposition; Prevention; Publishing; Questionnaires; Recruitment Activity; Reporting; Research; Research Personnel; Resources; Sampling; Scanning; Secure; Source; United States National Institutes of Health; Urine; base; case control; density; genetic analysis; genetic linkage analysis; genetic pedigree; genome wide association study; genome-wide linkage; improved; programs; trait

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 sets of families as well as case-control sets with well-characterized diabetic nephropathy (DN), establish a secure master database, and to localize and identify genes that influence susceptibility to diabetic nephropathy and end-stage renal disease. The FIND has recruited European American (EA), African American (AA), Mexican American (MA) and American Indian (AI) populations to assess genetic contributions that may be specific to various populations. Genetic strategies include genome-wide linkage analyses and mapping by admixture linkage disequilibrium (MALD). In addition, most of the clinical centers conduct a separate sub-study for diabetic retinopathy. In the years of the recruitment phase for both the family and case-control studies the FIND study screened more than 9500 participants. Phenotype data include a medical record review, a self-reported medical questionnaire and biological samples (blood and urine) for biochemical assay. B-lymphocytes, serum, plasma and urine have been preserved in an archive for future studies. Data cleaning for this project relied heavily on the S.A.G.E. programs RELTEST, to verify pedigree relationships, and MARKERINFO, to identify Mendelian-incompatible genotyping errors. A genomewide linkage scan, using the regression-based approach in the SIBPAL program in S.A.G.E., the conditional logistic model in LODPAL and other methods, was completed in more than 4800 participants from the family study. A low-density association analysis was also carried out via the family-based method implemented in ASSOC. Manuscripts reporting findings on diabetes mellitus and on DN and several related traits are currently under review. The AA MALD study recently published results from its first analysis in Nature Genetics. Identification of genes that influence susceptibility to diabetic nephropathy and/or kidney failure 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 performing genotyping for a genomewide association study in 5200 individuals, including some nuclear families. Data analysis of the results will be performed in the spring of 2009, with ASSOC as the primary analysis approach for the samples including family data.

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) 的家庭组和病例对照组，建立安全的主数据库，并定位和识别基因影响糖尿病肾病和终末期肾病的易感性。 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) 人群来评估可能特定于不同人群的遗传贡献。遗传策略包括全基因组连锁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。 在家庭研究和病例对照研究的招募阶段，FIND 研究筛选了超过 9500 名参与者。 表型数据包括病历审查、自我报告的医学调查问卷和用于生化测定的生物样本（血液和尿液）。 B 淋巴细胞、血清、血浆和尿液已保存在档案中以供将来研究。 该项目的数据清理很大程度上依赖于 S.A.G.E.程序 RELTEST 用于验证谱系关系，而 MARKERINFO 用于识别孟德尔不兼容的基因分型错误。 使用 S.A.G.E. 中 SIBPAL 程序中基于回归的方法、LODPAL 中的条件逻辑模型和其他方法，对来自家庭研究的 4800 多名参与者完成了全基因组连锁扫描。 还通过 ASSOC 中实施的基于家族的方法进行了低密度关联分析。 目前正在审查报告糖尿病和 DN 以及若干相关特征的研究结果的手稿。 AA MALD 研究最近在《自然遗传学》上发表了其首次分析结果。 鉴定影响糖尿病肾病和/或肾衰竭易感性的基因将有助于更好地了解严重肾脏疾病的发展情况。这最终应该会导致治疗和预防的改善。 目前，FIND 研究正在对 5200 名个体（包括一些核心家庭）进行全基因组关联研究的基因分型。 结果的数据分析将于2009年春季进行，以ASSOC作为包括家庭数据在内的样本的主要分析方法。