WV-INBRE:APPALACHIAN CARDIOVASCULAR RESEARCH NETWORK (ACORN)

WV-INBRE：阿巴拉契亚心血管研究网络 (ACORN)

基本信息

批准号：
7720325
负责人：
Donald Anthony Primerano
金额：
$ 47.78万
依托单位：
MARSHALL UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2008
资助国家：
美国
起止时间：
2008-05-01 至 2009-04-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7720325
关键词：
Anise Seed Candidate Disease Gene Cardiovascular Physiology Cardiovascular system Childhood Cholesterol Chromosome Mapping Computer Retrieval of Information on Scientific Projects Database Core Facility DNA Library DNA Sequence Databases Development Disease Doctor of Philosophy Dyslipidemias Elevation Enrollment Familial Combined Hyperlipidemia Family Floods Funding Gene Expression Profiling Genes Genetic Genetic Research Genomics Genotype Grant Holly Human Hyperlipoproteinemia Type IV Individual Institution LDL Cholesterol Lipoproteins Lead Linkage Disequilibrium Maps Marshal Mentors Methods Molecular Biology Nursing Research Obesity associated cardiovascular disease Patients Population Predisposition Protocols documentation Research Research Ethics Committees Research Personnel Research Project Grants Resources Rice Rivers Source Support of Research Susceptibility Gene Technology Testing Thinking Triglycerides United States National Institutes of Health Universities West Virginia base design disease phenotype functional genomics genetic linkage analysis human subject member programs

项目摘要

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 ACoRN research program calls for the continued development of genetic research projects that rely on gene mapping and functional genomics technologies. The major objective of ACoRN under WV-INBRE is to support the research of three separate subprojects: (1) Obesity Associated Cardiovascular Disease (OCARD), (2) Familial Combined Hyperlipidemia (FCHL) and (3) Familial Hypertriglyceridemia (FHTG). Although these subprojects are listed as separate entities (SPID# 14, 25 and 26), we are using a team approach in the ascertainment of the susceptibility loci. The ACoRN team is directed by Donald Primerano PhD and consists of project investigators, consultants and mentors from the lead institutions with expertise in genetic mapping, statistical genetics, genotyping, cardiovascular physiology and molecular biology. OCARD project: The objective of this project is to identify OCARD genes using population-based association methods. We plan to enroll 500-1000 subjects in this study. We have prepared a master list of candidate genes with tagging SNPs and will test for associations between these SNPs and OCARD phenotypes. FCHL project: FCHL is defined by elevation of LDL cholesterol and triglycerides and is one of the most common familial dyslipidemias. The objective of this project is to map FCHL susceptibility genes through use of linkage and linkage disequilibrium analyses. We have devised a protocol for recruitment of FCHL families. Human subject protocols have been approved at Marshall University, West Virginia University and CAMC. FHTG project: Individuals with FHTG have elevated levels of triglycerides and normal total cholesterol, and the disease is thought to segregate as an autosomal dominant disorder. The overall objective of this project is to identify gene(s) that predispose humans to FHTG using family-based linkage analysis. We will identify FHTG patients in our screens for FCHL families and will prepare human subject protocols in WV-INBRE year 6. WV-INBRE also supports the Marshall University Genomics Core Facility which provides gene expression profiling, automated DNA Sequencing and genotypic analysis for these ACORN projects and other WV-INBRE research. ACoRN Member Institution Responsibilities Donald Primerano, PhD MU ACoRN director/mentor Yulia Dementieva, PhD MU Genetic analyst James Denvir, PhD MU Database Manager Mark Flood, PhD FSU FCHL Project Dir. Robert Kreisberg, PhD W LSC FHTG Project Dir. Huey Miin Lee, PhD WV WC Genetic Analyst William Neal, MD WVU Pediatric Cardiologist Holly Blackwood, RN CAMC IRB design Susan Ritchie, RN WVU FCHL coordinator Goran Boskovic, PhD MU Microarray Manager Liping Wei MU DNA Bank Manager Kristen Webb MU Project coordinator Research Nurses Anise Nash, CDE MU Patient enrollment Michelle Black, RN LPCC Patient enrollment Scarlett Rice, LPN Tug River Patient enrollment carla Jeffrey, LPN VHS Patient enrollment

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。子项目及研究者 (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。 ACoRN 研究计划呼吁继续开发依赖基因图谱和功能基因组学技术的基因研究项目。 WV-INBRE 下的 ACoRN 的主要目标是支持三个独立子项目的研究：(1) 肥胖相关心血管疾病 (OCARD)、(2) 家族性混合性高脂血症 (FCHL) 和 (3) 家族性高甘油三酯血症 (FHTG)。尽管这些子项目被列为单独的实体（SPID# 14、25 和 26），但我们正在使用团队方法来确定易感位点。 ACoRN 团队由 Donald Primerano 博士领导，由来自领先机构的项目研究员、顾问和导师组成，他们在遗传图谱、统计遗传学、基因分型、心血管生理学和分子生物学方面拥有专业知识。 OCARD 项目：该项目的目标是使用基于人群的关联方法来识别 OCARD 基因。我们计划招募 500-1000 名受试者参与这项研究。我们已经准备了带有标记 SNP 的候选基因主列表，并将测试这些 SNP 与 OCARD 表型之间的关联。 FCHL 项目：FCHL 的定义是 LDL 胆固醇和甘油三酯升高，是最常见的家族性血脂异常之一。该项目的目标是通过使用连锁和连锁不平衡分析来绘制 FCHL 易感基因图谱。我们制定了招募 FCHL 家庭的协议。人类受试者方案已获得马歇尔大学、西弗吉尼亚大学和 CAMC 的批准。 FHTG 项目：患有 FHTG 的个体甘油三酯水平升高，总胆固醇水平正常，该疾病被认为是一种常染色体显性遗传疾病。该项目的总体目标是使用基于家族的连锁分析来识别使人类易患 FHTG 的基因。我们将在 FCHL 家族筛查中识别 FHTG 患者，并将在 WV-INBRE 第 6 年准备人类受试者方案。 WV-INBRE 还支持马歇尔大学基因组学核心设施，该设施为这些 ACORN 项目和其他 WV-INBRE 研究提供基因表达谱、自动 DNA 测序和基因型分析。 ACoRN 成员机构的职责 Donald Primerano，博士 MU ACoRN 主任/导师 Yulia Dementieva，博士 MU 遗传分析师 James Denvir 博士 MU 数据库经理 Mark Flood 博士 FSU FCHL 项目总监 Robert Kreisberg 博士 W LSC FHTG 项目总监 Huey Miin Lee 博士 WV WC 遗传分析师 William Neal，医学博士西弗吉尼亚大学儿科心脏病专家 Holly Blackwood，RN CAMC IRB 设计 Susan Ritchie，RN WVU FCHL 协调员 Goran Boskovic 博士 MU 微阵列经理魏丽萍 MU DNA 银行经理克里斯汀·韦伯 MU 项目协调员研究护士 Anise Nash，CDE MU 患者登记米歇尔·布莱克 (Michelle Black)，注册护士 LPCC 患者登记 Scarlett Rice，LPN Tug River 患者登记 Carla Jeffrey，LPN VHS 患者登记