Correlation between left ventricular mass and urinary sodium excretion in specific genotypes of CYP11B2
Correlation between left ventricular mass and urinary sodium excretion in specific genotypes of CYP11B2
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DOI：
10.1097/01.hjh.0000170377.00591.7e
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发表时间：
2005-06-01
影响因子：
4.9
通讯作者：
White, PC
中科院分区：
文献类型：
--
作者：
Isaji, M;Mune, T;White, PC
背景醛固酮在调节血管内容积和血压方面具有重要作用，并被认为影响心脏结构。目的探讨醛固酮合成酶基因（CYP 11B 2）多态性在中国汉族人群中的分布情况，以及基因型与血压、尿醛固酮、电解质排泄量及超声心动图的关系。方法和结果我们检测了CYP 11B 2中两个常见的双等位基因多态性与血压的关系，一个在启动子-344T/C，另一个在内含子2基因转换，日本人群24小时尿醛固酮和电解质排泄及超声心动图测量。我们证实了这些多态性位点和等位基因频率的种族差异之间的显着连锁不平衡。-344C和-344T单倍型在后一种单倍型上产生内含子转换多态性之前明显分化。等位基因频率在535名正常血压者和360名高血压者之间，或在高血压患者与低血压患者之间没有差异。结论CYP 11B 2基因-344CC或内含子2转换（-/-）基因型可能是发生钠敏感性心肌肥厚的危险因素。CYP 11B 2基因型分布的种族差异加上盐摄入量的差异可能是以前报告之间不一致的原因。(c)2005年利平科特威廉姆斯&威尔金斯。
Background Aldosterone has essential roles in regulating intravascular volume and blood pressure, and is suggested to influence cardiac structure. However, the association of polymorphisms in the aldosterone synthase gene (CYP11B2) with hypertension or cardiac hypertrophy remains controversial.Objective To evaluate the distribution of polymorphisms in the CYP11B2 gene and the possible associations between genotypes and blood pressure, urinary excretion of aldosterone or electrolytes and echocardiographic measurements, in a Japanese population.Methods and results We examined the association of two common diallelic polymorphisms within CYP11B2, one in the promoter -344T/C and the other an intron 2 gene conversion, with blood pressure, 24-h urinary excretion of aldosterone and electrolytes, and echocardiographic measurements, in a Japanese population. We confirmed significant linkage disequilibrium between these polymorphic loci and ethnic differences in frequency of the alleles. The -344C and -344T haplotypes apparently diverged before the intron conversion polymorphism was generated on the latter haplotype. Allele frequencies did not differ between 535 normotensive and 360 hypertensive individuals or between hypertensive individuals with higher and lower concentrations of renin. The only significant correlation was a positive correlation of left ventricular mass with 24-h urinary excretion of sodium, which occurred only in individuals with the -344CC genotype or the intron 2 conversion (-/-) genotype.Conclusions The -344CC or intron 2 conversion (-/-) genotype in CYP11B2 may be a risk factor for developing sodium-sensitive cardiac hypertrophy. Ethnic differences in the distribution of CYP11B2 genotypes combined with differences in salt intake might account for inconsistencies between previous reports. (c) 2005 Lippincott Williams & Wilkins.