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血管紧张素原基因M235T变异与早发性家族性高血压的关联。

Association of M235T variant of the angiotensinogen gene with familial hypertension of early onset.

作者信息

Schmidt S, Sharma A M, Zilch O, Beige J, Walla-Friedel M, Ganten D, Distler A, Ritz E

机构信息

Department of Internal Medicine, University of Heidelberg, Germany.

出版信息

Nephrol Dial Transplant. 1995;10(7):1145-8.

PMID:7478115
Abstract

A higher frequency of a variant of the angiotensinogen gene characterized by a transition in exon 2 causing a replacement of methionine by threonine (M235T) has recently been found in hypertensive individuals, but not all authors were able to confirm this observation. We examined (i) 219 patients with primary hypertension, (ii) 92 normotensive controls (spouses), and (iii) a sample of the general population (blood donors, n = 139). Analysis of genomic DNA was performed by PCR amplification and alleles were separated on agarose gels. In the general population and in normotensive spouses the respective frequencies of the T and M alleles were: general population: M = 0.6, T = 0.4; normotensive spouses: M = 0.59, T = 0.41. A significantly higher frequency of the 235T allele was found in hypertensive individuals with a family history of hypertension and an onset of hypertension before 50 years of age (spouses: 0.41 versus HT with age of onset < or = 50 years and family history of HT: 0.56; P = 0.01 by chi 2). In conclusion, the present study confirms the observation of a higher frequency of the 235T allele of the angiotensinogen gene in hypertension and identifies individuals with family history and early onset of hypertension as individuals at risk.

摘要

最近在高血压患者中发现,血管紧张素原基因的一种变异频率较高,其特征为外显子2发生转换,导致甲硫氨酸被苏氨酸取代(M235T),但并非所有作者都能证实这一观察结果。我们研究了:(i)219例原发性高血压患者;(ii)92名血压正常的对照者(配偶);以及(iii)普通人群样本(献血者,n = 139)。通过PCR扩增对基因组DNA进行分析,并在琼脂糖凝胶上分离等位基因。在普通人群和血压正常的配偶中,T和M等位基因的各自频率分别为:普通人群:M = 0.6,T = 0.4;血压正常的配偶:M = 0.59,T = 0.41。在有高血压家族史且高血压发病年龄在50岁之前的高血压患者中,发现235T等位基因的频率显著更高(配偶:0.41,而发病年龄≤50岁且有高血压家族史的高血压患者:0.56;χ²检验,P = 0.01)。总之,本研究证实了高血压患者中血管紧张素原基因235T等位基因频率较高这一观察结果,并确定有家族史和高血压早发的个体为高危个体。

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