GENETICS OF HYPERTENSION IN THE FRAMINGHAM HEART STUDY

产品说明：（改编自申请人的摘要）SCOR的工作已经证明了肾盐处理中的遗传变异在人类血压变化中的关键作用。这些来自孟德尔疾病的发现提出了一个问题，即同一途径基因中更常见的变异是否会改变普通人群的血压。本计画探讨遗传性血压变异、终末期肾脏疾病及左心室肥大的原因。研究人群为从GAMBRO透析中心招募的4100名Fractional Heart研究和多发性肾病终末期肾病患者。具体目标1将在来自心脏研究的4000名受试者中研究基因中的单核苷酸多态性对血压和LVH的影响，其中突变导致遗传性高血压或低血压。这项研究有很大的力量来检测这些变异所带来的即使是适度的影响。具体目标2将致力于17号染色体上的血压基因座的定位克隆，该基因座在来自Frachial Study的家族中与收缩压连锁的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.