2015年11月，国际著名学术期刊Nature Genetics发表了一项跨种族人群的大型高血压遗传学研究结果，该研究发现了在CPG岛附近有12个与血压相关的新位点（SNPs）。本研究将利用这12个新的标志性位点和先进的新一代测序技术，在中国汉族人群中，来进一步发现与高血压相关联的新的功能性遗传变异。首先，我们将选择300例高血压者和300例性别匹配的健康对照，针对这12个标签位点的相关功能区域进行深度测序，以发现新的与高血压相关的功能性遗传变异。其次，选择2000例高血压病例和2000例健康对照，进一步验证经测序所发现的遗传变异。最后，利用一系列生物信息学工具对新发现的相关遗传变异进行功能预测以及对基因所调控的关键分泌性蛋白酶指标进行血清学检测。本研究将有助于阐明高血压的遗传机制、预测高危个体以及发展新的高血压的防治药物。

In November of 2015, Nature Genetics, the famous international journal, published the findings of trans-ethnic genetics and replication study of blood pressure phenotypes, in which the study identified 12 new genetic loci at multiple nearby CpG sites influencing blood pressure phenotypes. The proposed study takes advantage of 12 newly identified novel sentinel loci associated with blood pressure, and utilizes cutting-edge next-generation resequencing technology to identify novel functional variants for hypertension in the Chinese Han population. First, this proposed study will conduct deep resequencing functional regions of 12 newly identified novel sentinel loci to discover novel functional variants associated with hypertension among 300 hypertensive patients and 300 gender-matched healthy controls. Second, the proposed study will further verify the associations of novel functional variants with hypertension among 2,000 hypertensive patients and 2,000 healthy controls. Third, the study will use a series of bioinformatics tools to predict functions of identified variants, and examine key enzymatic biomarker regulated by gene variants. The proposed study will help to understand the molecular mechanisms underlying hypertension etiology, identify individuals at high risk for hypertension, and enable the discovery of new pharmaceutical prevention and treatment for hypertension in Chinese Han population.