Gong Ping-yuan, Shen Guo-min, Peng He-mei, Luo Yan, Shen Yan, Zhao Xiao
Department of Medical Genetics, Medical College, Henan University of Science and Technology, Luoyang, Henan, 471003 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):91-4. doi: 10.3760/cma.j.issn.1003-9406.2009.01.021.
To investigate the association of the polymorphisms of rs4961 in alpha-adducin (ADD1) and rs28933400 in Na+/K+ -ATPase a2 (ATP1A2) genes, the products of which are important for sodium transport, with essential hypertension.
Mutagenically separated PCR (MS-PCR) was used to detect the genotypes of the two loci. The subjects were recruited randomly including 196 patients of essential hypertension and 192 healthy controls.
The frequencies of genotypes and alleles of in the ADD1 gene were significantly different between the patients and controls respectively (P=0.03, P=0.04). There was significant relationship between the genotypes of rs4961 and systolic blood pressure and blood sodium concentration. However, there was no significant relationship between the rs4961 genotypes and diastolic blood pressure, body mass index, blood kalium and chlorine concentrations. There was no polymorphism at the rs28933400 locus in the subjects analyzed.
The rs4961 polymorphism of the ADD1 gene is associated with essential hypertension, but the rs28933400 locus in the ATP1A2 gene may have no association with essential hypertension in the studied population.
研究α-内收蛋白（ADD1）基因中rs4961多态性及钠钾ATP酶α2（ATP1A2）基因中rs28933400多态性（其产物对钠转运至关重要）与原发性高血压的关联。
采用诱变分离PCR（MS-PCR）检测两个位点的基因型。随机招募受试者，包括196例原发性高血压患者和192例健康对照者。
ADD1基因的基因型和等位基因频率在患者和对照者之间分别存在显著差异（P = 0.03，P = 0.04）。rs4961的基因型与收缩压和血钠浓度之间存在显著关系。然而，rs4961基因型与舒张压、体重指数、血钾和血氯浓度之间无显著关系。在所分析的受试者中，rs28933400位点不存在多态性。
ADD1基因的rs4961多态性与原发性高血压相关，但在研究人群中，ATP1A2基因的rs28933400位点可能与原发性高血压无关。
