State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Division of Population Genetics, Department of Evidence Based Medicine, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Hypertens Res. 2013 Jan;36(1):74-8. doi: 10.1038/hr.2012.132. Epub 2012 Aug 30.
Genetic factors may determine an individual's blood pressure (BP) level and risk for hypertension. This study aimed to examine the associations between genetic variants of the adrenomedullin (ADM) gene and essential hypertension, as well as BP levels, in a Chinese Han population. In this study, 2410 hypertensive patients and 2346 normal controls were recruited. Three tagging single-nucleotide polymorphisms (SNPs) based on the HapMap CHB data were selected and genotyped. No significant associations between the three SNPs of the ADM gene and hypertension status were observed. However, SNP rs4399321 was found to be associated with BP levels among the controls. GG homozygotes for this SNP had higher systolic BP (SBP) levels than carriers of the A allele (P=0.002). Particularly in non-drinkers, GG homozygotes had significantly higher SBP (116.9±0.9 vs. 113.7±0.3 mm Hg, P=0.001) and diastolic (74.0±0.7 vs. 72.6±0.2 mm Hg, P=0.046) BP levels than carriers of the A allele. Neither rs4910118 nor rs7944706 was associated with BP levels in the controls either before or after being stratified by drinking status. The results of this study showed that genetic variations in the ADM gene were not associated with the risk of hypertension in a Chinese population. However, the genotype at common variation rs4399321 may influence the BP level in normotensive subjects, especially among non-drinkers. In addition, replications in other populations and further functional studies are required to confirm and interpret the association of ADM with BP.
遗传因素可能决定个体的血压（BP）水平和高血压风险。本研究旨在探讨中国人肾上腺素髓质素（ADM）基因的遗传变异与原发性高血压以及血压水平之间的关系。在这项研究中，共招募了 2410 名高血压患者和 2346 名正常对照者。根据 HapMap CHB 数据，选择并检测了三个标签单核苷酸多态性（SNP）。未发现 ADM 基因的三个 SNP 与高血压状态之间存在显著关联。然而，SNP rs4399321 与对照组的血压水平有关。该 SNP 的 GG 纯合子比携带 A 等位基因的个体收缩压（SBP）水平更高（P=0.002）。特别是在不饮酒者中，GG 纯合子的 SBP（116.9±0.9 比 113.7±0.3mmHg，P=0.001）和舒张压（74.0±0.7 比 72.6±0.2mmHg，P=0.046）水平显著高于携带 A 等位基因的个体。rs4910118 和 rs7944706 在对照组中也无论是否按饮酒状态分层，均与血压水平无关。本研究结果表明，ADM 基因的遗传变异与中国人高血压风险无关。然而，常见变异 rs4399321 的基因型可能影响正常血压受试者的血压水平，尤其是在不饮酒者中。需要在其他人群中进行复制，并进行进一步的功能研究，以证实和解释 ADM 与血压的关联。
