The atrial natriuretic peptide genetic variant rs5068 is associated with a favorable cardiometabolic phenotype in a Mediterranean population.

The atrial natriuretic peptide genetic variant rs5068 is associated with a favorable cardiometabolic phenotype in a Mediterranean population.
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DOI:
10.2337/dc12-2337
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发表时间:
2013-09
期刊:
影响因子:
16.2
通讯作者:
Burnett JC Jr
Burnett JC Jr
中科院分区:
医学1区
文献类型:
--
作者:
Cannone V;Cefalu' AB;Noto D;Scott CG;Bailey KR;Cavera G;Pagano M;Sapienza M;Averna MR;Burnett JC Jr

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我们假设心房钠尿肽 (ANP) 遗传变异 rs5068 的次要等位基因与一般地中海人群中有利的心脏代谢表型相关。我们对西西里岛文蒂米利亚西西里岛居民的随机样本进行了 rs5068 基因分型。 rs5068基因型频率为AA,93.5%;股份公司,6.4%;和GG,0.1%。所有后续分析均为 AA 与 AG+GG。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,HDL 胆固醇水平 <40 mg/dL 的男性较少见 (P = 0.05),肥胖也较少发生 (P = 0.07)。重要的是,G 等位基因与较低的代谢综合征患病率相关(P = 0.02)。调整 BMI 后,上述关联性减弱。与年龄、性别和 BMI 无关,次要等位基因还与较低的收缩压(−6.0 mmHg [2.5],P = 0.02)和较低的高血压患病率相关(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过的 rs5068 的次要等位基因与有利的心脏代谢表型之间的关联现在在地中海人群中得到了复制,其中 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评估心脏代谢风险的诊断策略,并为未来开发 ANP 或 ANP 类代谢综合征疗法奠定基础。
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/m2 [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.
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DOI: 10.1161/circ.106.25.3143
发表时间: 2002-12-17
期刊: CIRCULATION
影响因子: 37.8
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