Frossard P M, Lestringant G G, Elshahat Y I, John A, Obineche E N
Department of Pathology, Faculty of Medicine & Health Sciences, Al Ain, UAE.
Hypertens Res. 1998 Sep;21(3):221-5. doi: 10.1291/hypres.21.221.
As a key enzyme of the renin-angiotensin-aldosterone system, the renin gene (REN) is a good candidate quantitative trait locus that may be implicated in the molecular etiology of essential hypertension. Among mixed reports on the subject, a REN MboI restriction fragment length polymorphism has been shown to be significantly associated with a family history of hypertension in a Japanese population. We show here that the REN MboI dimorphic site is located in the ninth intron of the gene, and we describe a polymerase chain reaction-based assay for detection of this site. We investigated MboI genotype distributions in 331 hypertensive and 279 normotensive subjects from the United Arab Emirates (UAE), a genetically homogeneous ethnic population with no history of smoking or alcohol consumption. A statistically significant association was found between alleles on which the MboI site is present and clinical diagnosis of essential hypertension, indicating that 1) the presence of the MboI site is a marker for susceptibility to hypertension in the UAE (the associated odds ratio is 3.16); and 2) variations of the REN (or of a nearby) gene that may be in linkage disequilibrium with this marker play a role in the development of essential hypertension in the UAE.
作为肾素-血管紧张素-醛固酮系统的关键酶，肾素基因（REN）是一个很好的候选数量性状位点，可能与原发性高血压的分子病因有关。在关于该主题的混合报道中，REN MboI限制性片段长度多态性已被证明与日本人群中的高血压家族史显著相关。我们在此表明，REN MboI二态性位点位于该基因的第九个内含子中，并描述了一种基于聚合酶链反应的检测该位点的方法。我们调查了来自阿拉伯联合酋长国（UAE）的331名高血压患者和279名血压正常者的MboI基因型分布，这是一个遗传同质的种族群体，无吸烟或饮酒史。发现存在MboI位点的等位基因与原发性高血压的临床诊断之间存在统计学上的显著关联，这表明：1）MboI位点的存在是阿联酋人群中高血压易感性的一个标志物（相关比值比为3.16）；2）可能与该标志物处于连锁不平衡状态的REN（或附近）基因的变异在阿联酋原发性高血压的发生中起作用。
