WV-INBRE:APPALACHIAN CARDIOVASCULAR RESEARCH NETWORK (ACORN)

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。ACoRN研究计划呼吁继续发展依赖基因定位和功能基因组学技术的基因研究项目。WV-INBRE下的ACoRN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)家族性合并高脂血症（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），我们在确定易感位点时使用的是团队方法。ACoRN团队由Donald Primerano博士领导，由来自领先机构的项目调查员、顾问和导师组成，他们在基因图谱、统计遗传学、基因分型、心血管生理学和分子生物学方面具有专业知识。OCARD项目：该项目的目的是利用基于群体的关联方法鉴定OCARD基因。我们计划在这项研究中招募500-1000名受试者。我们已经准备了一份带有标记snp的候选基因的主列表，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。该项目的目的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。我们制定了一项招募外籍家庭成员的方案。马歇尔大学、西弗吉尼亚大学和CAMC已经批准了人体试验方案。FHTG项目：FHTG患者的甘油三酯水平升高，总胆固醇正常，该疾病被认为是一种常染色体显性遗传病。该项目的总体目标是通过基于家族的连锁分析来确定使人类易患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年准备人体受试者方案。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成员机构职责Donald Primerano， 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项目主任。Robert Kreisberg博士，wlsc FHTG项目总监。Huey Miin Lee博士，WV WC基因分析师William Neal博士，WVU儿科心脏病专家Gary Wright博士，MU心脏生理学家Holly Blackwood， RN CAMC IRB设计苏珊里奇，RN WVU FCHL协调员Goran Boskovic， MU微阵列经理李丽平博士，MU DNA库经理克里斯汀韦伯，MU项目协调员研究护士Anise Nash， CDE MU患者登记米歇尔布莱克，RN LPCC患者登记Scarlett Rice， LPN Tug River患者登记Joy Shingleton，LPN TCHC患者登记Kelli Hodges， LPN VHS患者登记

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 Gary Wright MU Cardio physiologist 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 Joy Shingleton, LPN TCHC Patient enrollment Kelli Hodges, LPN VHS Patient enrollment