Barlassina C, Norton G R, Samani N J, Woodwiss A J, Candy G C, Radevski I, Citterio L, Bianchi G, Cusi D
Department of Nephrology and Graduate School of Nephrology, University of Milano, Milan, Italy.
Am J Hypertens. 2000 Jun;13(6 Pt 1):719-23. doi: 10.1016/s0895-7061(00)01187-0.
The alpha-adducin gene contributes significantly to hypertension in MHS rats (rats of the Milan hypertensive strain) and in some white and Japanese populations, causing a low renin, sodium, and diuretic-sensitive hypertension. No data are available from populations of African ancestry who have a high prevalence of low renin, sodium, and diuretic-sensitive hypertension. We studied the relationship between the 460-Trp variant of alpha-adducin gene with hypertension using a case-control study design in black South Africans. Surprisingly we found that the overall frequency of the 460-Trp allele was low (approximately 6%), but in spite of such relatively low frequency, the 460-Trp allele was 2.5-fold more frequent in hypertensives than normotensives (P = .028), with an odds ratio for hypertension associated to the state of carrier of at least one 460-Trp allele of 2.68. The finding of such low frequency of the 460-Trp allele in individuals of African ancestry points to the substantial ethnic variability of the genes that have been found to be associated with hypertension. On the other hand, it suggests an association of the 460-Trp allele with hypertension also in subjects of African origin.
α-内收蛋白基因对米兰高血压大鼠（MHS大鼠）以及一些白人和日本人群的高血压有显著影响，会引发低肾素、低钠且对利尿剂敏感的高血压。目前尚无关于非洲裔人群的相关数据，而该人群中低肾素、低钠且对利尿剂敏感的高血压患病率很高。我们采用病例对照研究设计，在南非黑人中研究了α-内收蛋白基因460-Trp变异体与高血压之间的关系。令人惊讶的是，我们发现460-Trp等位基因的总体频率较低（约6%），但尽管频率相对较低，高血压患者中460-Trp等位基因的频率却是血压正常者的2.5倍（P = 0.028），携带至少一个460-Trp等位基因状态与高血压的比值比为2.68。在非洲裔个体中发现460-Trp等位基因频率如此之低，这表明已发现的与高血压相关的基因存在显著的种族变异性。另一方面，这也表明460-Trp等位基因在非洲裔个体中也与高血压有关。
