MOLECULAR GENETICS OF ESSENTIAL HYPERTENSION

高血压影响五分之一的澳大利亚成年人，是心脏病发作和中风死亡和发病的主要原因。这种情况往往在家庭和遗传易感性中运行，面对环境因素，导致血压升高。我的实验室已经证明了我们收集的一组受影响的高血压同胞的能力，以找到原发性高血压的位点，其水平已达到全基因组统计学显著性，并已发表在领先的分子遗传学杂志上。此外，这项先前的工作，包括在扫描1号染色体后发现一个暗示性位点后进行的精细定位，不仅证明了显着的连锁，而且还继续比较了不同群体之间的基因标记。父母2人患病的（无关）高血压受试者（和早发性、中度至重度高血压）和对照血压正常的匹配受试者，来鉴定一个可能的候选基因同样的方法将用于完成基因组的其余部分。原发性高血压所有基因的发现将是一个重要的前奏：（1）开发新的，更有效的治疗方法，因为负责的基因产物将能够被新的治疗方法靶向，（2）在生命早期对个体进行基因分型，以告知他们的风险是什么，从而允许对生活方式的改变进行指导，（3）更合理地应用现有的治疗策略，根据体积-神经-血管紧张素成分对高血压的贡献。

High blood pressure affects 1 in 5 Australian adults and is a leading cause of mortality and morbidity from heart attack and stroke. The condition tends to run in families and genetic predisposition, in the face of environmental factors, leads to the elevation in blood pressure. My Lab has demonstrated the capacity of a cohort of affected hypertensive sibships we have collected to find loci for essential hypertension at a level that has achieved genome-wide statistical significance and has been published in a leading molecular genetics journal. Moreover, this previous work, which included fine-mapping after finding a suggestive locus following a scan of chromosome 1, not only demonstrated significant linkage, but also went on to compare gene markers between a different cohort of (unrelated) hypertensive subjects with 2 affected parents (and early-onset, moderate to severe hypertension) and control normotensive matched subjects with unaffected parents, to identify a likely candidate gene. This same approach will be used to complete the rest of the genome. The discovery of all of the genes for essential hypertension will be an important prelude to: (1) developing new, more effective treatments, since the gene products responsible will be able to be targetted by novel therapeutics, (2) genotyping individuals early in life in order to advise them what their risk is, and thus allow couselling about lifestyle modification, (3) more logically apply existing treatment strategies according to the volume-neural-vasoconstrctor component of the contribution to high blood pressure.