Kupari M, Hautanen A, Lankinen L, Koskinen P, Virolainen J, Nikkila H, White P C
Department of Medicine, Helsinki University Central Hospital, Finland.
Circulation. 1998 Feb 17;97(6):569-75. doi: 10.1161/01.cir.97.6.569.
Aldosterone has direct and indirect effects on the heart, and genetic variations in aldosterone synthesis could therefore influence cardiac structure and function. Such variations might be associated with polymorphisms in the gene encoding aldosterone synthase (CYP11B2), the enzyme catalyzing the last steps of aldosterone biosynthesis.
A Finnish population sample of 84 persons (44 women) aged 36 to 37 years was studied by M-mode and Doppler echocardiography to assess left ventricular size, mass, and function. Subjects were genotyped through the use of the polymerase chain reaction for two diallelic polymorphisms in CYP11B2: one in the transcriptional regulatory region (promoter) and the other in the second intron. In multiple regression analyses, the CYP11B2 promoter genotype predicted statistically significant variations in left ventricular end-diastolic diameter (beta=.40, P<.0001), end-systolic diameter (beta=.33, P=.0009), and mass (beta=.17, P=.023). These effects were independent of potentially confounding factors, including sex, body size, blood pressure, physical activity, smoking, and ethanol consumption. Genotype groups also differed in a measure of left ventricular diastolic function, the heart rate-adjusted atrial filling fraction (P=.018). Increased dietary salt, which is known to predict increased left ventricular mass, had this effect only in association with certain CYP11B2 genotypes (P<.001).
Genetic variations in or near the aldosterone synthase (CYP11B2) gene strongly affect left ventricular size and mass in young adults free of clinical heart disease. These polymorphisms may also influence the response of the left ventricle to increases in dietary salt.
醛固酮对心脏有直接和间接影响，因此醛固酮合成的基因变异可能会影响心脏结构和功能。此类变异可能与编码醛固酮合酶（CYP11B2）的基因多态性有关，该酶催化醛固酮生物合成的最后几步。
对84名年龄在36至37岁的芬兰人群样本（44名女性）进行M型和多普勒超声心动图检查，以评估左心室大小、质量和功能。通过聚合酶链反应对受试者进行基因分型，检测CYP11B2基因的两个双等位基因多态性：一个位于转录调控区（启动子），另一个位于第二内含子。在多元回归分析中，CYP11B2启动子基因型可预测左心室舒张末期直径（β = 0.40，P < 0.0001）、收缩末期直径（β = 0.33，P = 0.0009）和质量（β = 0.17，P = 0.023）的统计学显著差异。这些影响独立于潜在的混杂因素，包括性别、体型、血压、体力活动、吸烟和饮酒。基因型组在左心室舒张功能指标（心率校正的心房充盈分数）方面也存在差异（P = 0.018）。已知增加饮食中的盐摄入量可预测左心室质量增加，但这种影响仅与某些CYP11B2基因型相关（P < 0.001）。
醛固酮合酶（CYP11B2）基因或其附近的基因变异强烈影响无临床心脏病的年轻成年人的左心室大小和质量。这些多态性也可能影响左心室对饮食中盐增加的反应。
