WV-INBRE:APPALACHIAN CARDIOVASCULAR RESEARCH NETWORK (ACORN)

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。橡子研究计划呼吁继续开发依赖于基因图谱和功能基因组技术的基因研究项目。在WV-INBRE下，橡子的主要目标是支持三个单独的子项目的研究：(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)。虽然这些次级项目被列为单独的实体(SPID#14、25和26)，但我们正在使用小组方法来确定易感基因座。橡子团队由Donald Primerano博士指导，由来自领先机构的项目调查人员、顾问和导师组成，他们拥有遗传图谱、统计遗传学、基因分型、心血管生理学和分子生物学方面的专业知识。OCARD项目：该项目的目标是使用基于群体的关联方法识别OCARD基因。我们计划招募500-1000名受试者参加这项研究。我们已经准备了一份带有标记SNPs的候选基因总清单，并将测试这些SNPs与OCARD表型之间的关联。FCHL项目：FCHL是由低密度脂蛋白胆固醇和甘油三酯升高定义的，是最常见的家族性血脂异常之一。本项目的目标是通过连锁和连锁不平衡分析来定位FCHL易感基因。我们已经制定了招募家庭暴力家庭的方案。马歇尔大学、西弗吉尼亚大学和CAMC已经批准了人体实验方案。FHTG项目：患有FHTG的人甘油三酯水平升高，总胆固醇正常，这种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利用基于家庭的连锁分析确定使人类易患FHTG的基因(S)。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测序和基因分析。橡子成员机构职责Donald Primerano，博士MU橡子董事/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。罗伯特·克赖斯伯格博士，WLSC FHTG项目总监。Huey Miin Lee博士，WV WC遗传分析师William Neal，MD WVU儿科心脏病专家Gary Wright MU心脏生理学家Holly Blackwood，RN CAMC IRB设计Susan Ritchie，RN WVU FCHL协调员Goran Boskovic，Phd MU微阵列经理Liping wei MU DNA Bank经理Kristen Webb MU项目协调员研究护士ANISE NASH，CDE MU患者注册米歇尔·布莱克，RN LPCC患者注册斯嘉丽·赖斯，LPN拖格河患者注册喜悦·辛格尔顿，LPN TCHC患者注册Kelli Hodges，LPN VHS患者注册

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