GENETICS OF HYPERTENSION IN THE FRAMINGHAM HEART STUDY

描述：（改编自申请人的摘要）SCOR的工作已经证明了遗传变异在人类血压变化中肾盐处理的关键作用。这些来自孟德尔疾病发生率的发现提出了一个问题，即相同途径的基因中更常见的变异是否会改变普通人群的血压。本项目研究血压、终末期肾病和左心室肥厚遗传变异的原因。研究人群是从GAMBRO透析中心招募的弗雷明汉心脏研究和多种终末期肾病的4100名成员。特异性目的1将研究导致遗传性高血压或低血压的基因单核苷酸多态性对来自Framingham心脏研究的4000名受试者的血压和LVH的影响。这项研究有很大的能力来检测这些变异所带来的影响，即使是适度的影响。Specific Aim 2将致力于对17号染色体上的血压位点进行定位克隆，该位点在Framingham研究中显示出与收缩压相关的lod评分为4.7。

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.