WV-INBRE:APPALACHIAN CARDIOVASCULAR RESEARCH NETWORK (ACORN)

这个子项目是许多利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 ACoRN研究计划呼吁继续发展依赖基因图谱和功能基因组学技术的遗传研究项目。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）家族性合并高血压（FCHL）和（3）家族性高血压（FHTG）。 虽然这些子项目被列为单独的实体（SPID# 14，25和26），我们正在使用一个团队的方法在确定的易感基因座。 ACoRN团队由Donald Primerano博士领导，由来自领先机构的项目研究人员，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具有专业知识。 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。 本研究计划入组500-1000例受试者。 我们已经准备了一个带有SNP标签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是由LDL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。 本项目的目的是通过连锁和连锁不平衡分析来定位FCHL易感基因。 我们已经制定了一个协议，招募FCHL家庭。 人类受试者方案已在马歇尔大学、西弗吉尼亚大学和CAMC获得批准。 FHTG项目：患有FHTG的个体具有升高的甘油三酯水平和正常的总胆固醇，并且该疾病被认为是作为常染色体显性疾病分离的。本项目的总体目标是使用基于家族的连锁分析来鉴定使人类易患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分析、自动DNA测序和基因型分析。 ACoRN成员 机构 责任 Donald Primerano，博士 亩 ACoRN主任/导师 Yulia Dementieva博士 亩 基因分析师 James Denvir博士 亩 数据库管理器 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 基因分析员 William Neal，医学博士 WVU 儿科心脏病专家 加里·赖特 亩 心脏生理学家 冬青黑木，RN CAMC IRB设计 Susan里奇，注册护士 WVU FCHL协调员 Goran Boskovic，博士 亩 微阵列管理器 魏丽萍 亩 DNA库经理 克里斯汀·韦伯 亩 项目协调员 研究护士 Anise Nash，CDE 亩 患者入组 Michelle Black，注册护士 LPCC 患者入组 Scarlett Rice，LPN Tug River患者入组 Joy Shingleton，LPN TCHC 患者入组 Kelli Hodges，LPN VHS 患者入组

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