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醛固酮合酶基因-344T>C 多态性与原发性高血压及糖代谢稳态的相关性:一项汉族人群的病例对照研究。

Association of the aldosterone synthase gene -344T>C polymorphism with essential hypertension and glucose homeostasis: a case-control study in a Han Chinese population.

机构信息

Department of Endocrinology and Metabolism, Zhongshan Hospital, Shanghai, China.

出版信息

Clin Exp Pharmacol Physiol. 2011 Sep;38(9):598-604. doi: 10.1111/j.1440-1681.2011.05555.x.

DOI:10.1111/j.1440-1681.2011.05555.x
PMID:21682760
Abstract
  1. Aldosterone is a hormone that affects both blood pressure and glucose homeostasis. We studied the association of the aldosterone synthase gene (CYP11B2) polymorphism -344T>C with essential hypertension (EH) and glucose homeostasis in people in China. 2. We investigated the polymorphism -344T>C in CYP11B2 using a case-control study design (1059 cases and 1120 controls). Genotyping was carried out by matrix-assisted laser desorption/ionization time-of-flight mass spectroscopy using a MassARRAY platform. 3. The aldosterone synthase gene -344T>C polymorphism was found to be associated with EH (odds ratio 1.252; 95% confidence interval 1.067-1.468; P(add) = 0.006). The -344C variant was found to be significantly associated with increased systolic blood pressure (P(add) = 0.003) and diastolic blood pressure (P(add) = 0.024) in controls and increased plasma aldosterone levels (P(add) = 0.0001) in EH cases. The -344C variant was also found to be significantly associated with increased fasting glucose (P(rec) = 0.003) in controls. In the subgroup containing 893 EH cases without a history of diabetes or hypoglycaemia medications, the -344C variant was found to be associated with increased fasting and postprandial plasma glucose levels (P(add) = 0.0001, P(add) = 0.001, respectively) and decreased pancreatic β-cell function and insulin sensitivity (P(add) = 0.030, P(dom) = 0.019, respectively) by homeostasis model assessments. 4. In this Han Chinese population, the -344T/C polymorphism of the CYP11B2 gene was found to be associated with EH and glucose homeostasis, both of which might be mediated by plasma aldosterone levels, insulin sensitivity and β-cell function.
摘要
  1. 醛固酮是一种影响血压和葡萄糖稳态的激素。我们研究了中国人群中醛固酮合酶基因(CYP11B2)-344T>C 多态性与原发性高血压(EH)和葡萄糖稳态的关系。

  2. 我们采用病例对照研究设计(1059 例病例和 1120 例对照)研究 CYP11B2 的-344T>C 多态性。采用基质辅助激光解吸/电离飞行时间质谱法(MALDI-TOF-MS)在 MassARRAY 平台上进行基因分型。

  3. 醛固酮合酶基因-344T>C 多态性与 EH 相关(比值比 1.252;95%置信区间 1.067-1.468;P(add) = 0.006)。-344C 变体与对照组收缩压(P(add) = 0.003)和舒张压(P(add) = 0.024)升高以及 EH 病例中血浆醛固酮水平升高(P(add) = 0.0001)显著相关。-344C 变体也与对照组空腹血糖升高显著相关(P(rec) = 0.003)。在包含 893 例无糖尿病或低血糖药物史的 EH 病例的亚组中,-344C 变体与空腹和餐后血糖水平升高相关(P(add) = 0.0001,P(add) = 0.001),并且通过稳态模型评估发现β细胞功能和胰岛素敏感性降低(P(add) = 0.030,P(dom) = 0.019)。

  4. 在本汉族人群中,CYP11B2 基因的-344T/C 多态性与 EH 和葡萄糖稳态有关,这两者可能都由血浆醛固酮水平、胰岛素敏感性和β细胞功能介导。

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