GENETICS OF HYPERTENSION IN THE FRAMINGHAM HEART STUDY

弗雷明汉心脏研究中的高血压遗传学

• 批准号: 6844653
• 负责人: RICHARD P LIFTON
• 金额: $ 34.35万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-02-01 至 2006-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6844653
• 关键词: African American; blood pressure; chronic renal failure; clinical research; familial hypertension; family genetics; genetic polymorphism; human data; human genetic material tag; human population genetics; linkage mapping; ventricular hypertrophy

DESCRIPTION: (Adapted from the applicant's abstract) Work of the SCOR has demonstrated the key role of inherited variation in renal salt handling in blood pressure variation in humans. These findings from rate Mendelian diseases raise the question of whether more common variants in genes of this same pathway alter blood pressure in the general population. This project investigates the causes of inherited variation in blood pressure, end-stage renal disease and left ventricular hypertrophy. Study populations are 4100 members of the Framingham Heart Study and multiplex kindreds with end-stage renal disease recruited from the GAMBRO dialysis centers. Specific Aim 1 will investigate the impact of single nucleotide polymorphisms in genes in which mutations cause inherited forms of high or low blood pressure on blood pressure and LVH in 4000 subjects from the Framingham Heart Study. This Study has substantial power to detect even modest effects imparted by these variants. Specific Aim 2 will work toward the positional cloning of a blood pressure locus on chromosome 17 that demonstrated a lod score of 4.7 for linkage to systolic blood pressure in families from Framingham Study.

描述：（改编自申请人的摘要）SCOR 的工作证明了肾盐处理遗传变异在人类血压变化中的关键作用。孟德尔疾病的这些发现提出了这样一个问题：同一途径的基因中更常见的变异是否会改变普通人群的血压。该项目研究血压遗传变异、终末期肾病和左心室肥厚的原因。研究人群包括 Framingham 心脏研究的 4100 名成员以及从 GAMBRO 透析中心招募的患有终末期肾病的多重亲属。具体目标 1 将调查基因中的单核苷酸多态性对 Framingham 心脏研究中 4000 名受试者的血压和 LVH 的影响，其中突变会导致遗传性高血压或低血压。这项研究具有强大的能力来检测这些变异所带来的轻微影响。具体目标 2 将致力于对 17 号染色体上的血压基因座进行定位克隆，该基因座在弗雷明汉研究中显示与家庭收缩压的关联度为 4.7。