Cardiorenal Research Laboratory, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
Diabetes Care. 2013 Sep;36(9):2850-6. doi: 10.2337/dc12-2337. Epub 2013 May 1.
We hypothesized that the minor allele of the atrial natriuretic peptide (ANP) genetic variant rs5068 is associated with a favorable cardiometabolic phenotype in a general Mediterranean population.
We genotyped a random sample of the residents of Ventimiglia di Sicilia, Sicily, for rs5068.
Genotype frequencies of rs5068 are AA, 93.5%; AG, 6.4%; and GG, 0.1%. All subsequent analyses are AA versus AG+GG. After adjusting for age and sex, the minor G allele is associated with lower BMI (estimate [SE]: -1.7 kg/m(2) [0.8], P = 0.04). In the AG+GG group, males with HDL cholesterol levels <40 mg/dL are less frequent (P = 0.05) and obesity tends to be less prevalent (P = 0.07). Importantly, the G allele is associated with a lower prevalence of metabolic syndrome (P = 0.02). After adjusting for BMI, the above associations were attenuated. Independently of age, sex, and BMI, the minor allele is also associated with lower systolic blood pressure (-6.0 mmHg [2.5], P = 0.02) and lower prevalence of hypertension (odds ratio 0.41 [95% CI 0.20-0.83], P = 0.01).
The association between the minor allele of rs5068 and a favorable cardiometabolic phenotype that we previously reported in a U.S. population is now replicated in a Mediterranean population in which the G allele of rs5068 is associated with lower blood pressure, BMI, and prevalence of hypertension and metabolic syndrome. These findings may lead to a diagnostic strategy to assess cardiometabolic risk and lay the foundation for the future development of an ANP or ANP-like therapy for metabolic syndrome.
我们假设心房利钠肽（ANP）基因变异 rs5068 的次要等位基因与一般地中海人群中的有利心脏代谢表型相关。
我们对西西里岛文蒂米利亚的居民进行了 rs5068 的随机样本基因分型。
rs5068 的基因型频率为 AA，93.5％; AG，6.4％; 和 GG，0.1％。所有后续分析均为 AA 与 AG+GG 进行比较。在调整年龄和性别后，次要 G 等位基因与较低的 BMI 相关（估计值[SE]：-1.7 kg/m2[0.8]，P = 0.04）。在 AG+GG 组中，高密度脂蛋白胆固醇水平<40mg/dL 的男性频率较低（P = 0.05），肥胖症的发生率也较低（P = 0.07）。重要的是，G 等位基因与代谢综合征的患病率较低相关（P = 0.02）。在调整 BMI 后，上述关联减弱。独立于年龄、性别和 BMI，次要等位基因也与较低的收缩压相关（-6.0mmHg[2.5]，P = 0.02）和高血压的患病率较低相关（比值比 0.41[95％CI 0.20-0.83]，P = 0.01）。
我们之前在美国人群中报道的 rs5068 次要等位基因与有利心脏代谢表型之间的关联现在在一个地中海人群中得到了复制，在该人群中，rs5068 的 G 等位基因与较低的血压、BMI 以及高血压和代谢综合征的患病率相关。这些发现可能会导致一种评估心脏代谢风险的诊断策略，并为未来开发针对代谢综合征的 ANP 或类似 ANP 的治疗奠定基础。
