GENETIC DIAGNOSTIC TEST FOR ESSENTIAL HYPERTENSION

描述（由申请人提供）：原发性高血压，或病因不明的血压升高，比前五大疾病的发病率和死亡率更高。然而，没有诊断测试存在的原发性高血压的预测。我们已经开发了一种基于4个单核苷酸多态性（SNP）的人类诊断测试，该测试将成功预测加纳人约70%的时间（1）和日本人92%的时间（2）的高血压表型。我们的研究在几个种族人群中进行，如加纳人（n = 80），日本人（n = 800）和意大利高加索人（n = 120）。我们正在申请G蛋白相关激酶4（GRK4）中发现的三种诊断SNP的专利（3）。我们已经成功地获得了血管紧张素转换酶（ACE）基因中关键的第四个SNP的分许可。这种高血压预测遗传谱，称为“Hypogen测试”，可以使用我们公布的方法（4）使用Amplifluor TM技术，使用传统的热循环仪，然后是封闭管荧光终点，轻松且经济地测量。我们的具体目标集中在：1）。通过在我们先前测试的队列中测试与原发性高血压相关的额外SNP，通过拓宽SNP谱来提高诊断测试的预测能力，以及：2）通过测试最近获得的中国队列（N=800）来扩展测试的潜在用途。我们还计划将Hypogen检测从研究实验室转移到通过1988年临床实验室改进法案（CLIA）认证的临床实验室，以进行分子诊断检测，从而可以分析患者标本

DESCRIPTION (provided by applicant): Essential hypertension, or elevated blood pressure of unknown etiology, is responsible for more morbidity and mortality than the top five leading diseases. However, no diagnostic test exists for the prediction of essential hypertension. We have developed a human diagnostic test based on 4 single nucleotide polymorphisms (SNPs) that will successfully predict the hypertensive phenotype approximately 70 percent of the time (1) in Ghanaians, and 92 percent of the time in Japanese (2). Our studies have been conducted in several ethnic populations such as Ghanaians (n = 80), Japanese (n = 800), and Italian Caucasians (n = 120). We have a patent pending on three of the diagnostic SNPs found in the G protein related kinase type 4 (GRK4) (3). We have successfully sublicensed access to a key fourth SNP in the angiotensin converting enzyme (ACE) gene. This hypertension predicting genetic profile, called the "Hypogen Test," can be easily and affordably measured using our published method (4) employing the Amplifluor TM technology using a conventional thermal cycler followed by a closed tube fluorescent endpoint. Our specific aims are focused on: 1). improving the predictive capability of diagnostic test by broadening the SNP profile, by testing additional SNPs associated with essential hypertension in our previously tested cohorts, and: 2) expanding the potential use of the test by testing a recently acquired Chinese cohort (N=800). We also plan on transitioning the Hypogen Test from the research laboratory to a clinical laboratory certified by the clinical laboratory improvement act of 1988 (CLIA) to perform molecular diagnostic testing so that patient specimens may be analyzed