Watson Bracie
University of Alabama School of Medicine, Division of Gerontology and Geriatric Medicine, ZRB 627, 1530 3rd Avenue, South Birmingham, AL 35294, USA.
Curr Hypertens Rep. 2003 Jun;5(3):273-6. doi: 10.1007/s11906-003-0032-y.
Success in the search for genes that cause or contribute to hypertension susceptibility has been limited to a few rare Mendelian forms of hypertension (glucocorticoid remediable aldosteronism, apparent mineralocorticoid excess, and Liddle's syndrome). Our well-reasoned efforts to assess candidate genes in critical pathways known to be involved in blood pressure regulation have not been as productive in complex genetic cases of hypertension. These cases involve both genetic and environmental determinants. The most frequently used approach to the identification of hypertension genes involves genetic association studies, which are population based and compare cases and controls. Linkage analyses are also used but require family data. While much effort is spent identifying new markers and candidate genes, it is important to periodically determine which findings of linkage or association are confirmed in order to advance our quest to identify hypertension genes. In this review, the status of the assessment of the HSD11B2 gene is reviewed. In addition, data supporting the need to assess the mitochondrial genome, the other human genome, in hypertension susceptibility are reviewed.
在寻找导致或促成高血压易感性的基因方面,成功的案例仅限于少数几种罕见的孟德尔式高血压(糖皮质激素可治性醛固酮增多症、表观盐皮质激素过多症和利德尔综合征)。我们在评估已知参与血压调节的关键途径中的候选基因方面,经过深思熟虑的努力在复杂的高血压遗传病例中并未取得同样的成效。这些病例涉及遗传和环境决定因素。鉴定高血压基因最常用的方法是基于人群的遗传关联研究,即比较病例组和对照组。连锁分析也会用到,但需要家族数据。虽然在识别新标记和候选基因上投入了大量精力,但定期确定哪些连锁或关联发现得到了证实很重要,以便推进我们识别高血压基因的探索。在这篇综述中,我们回顾了HSD11B2基因评估的现状。此外,还综述了支持在高血压易感性中评估线粒体基因组(另一个人类基因组)必要性的数据。