钠离子转运相关基因多态与原发性高血压的相关性研究

Association of the polymorphisms of sodium transport related genes with essential hypertension

目的研究α-内收蛋白（alpha—adducin，ADD1）基因的rs4961位点和钠钾泵ATP酶α2亚基（Na^＋／K^＋ATPasea2，ATP1A2）基因的rs28933400位点与原发性高血压的相关性。方法选取原发性高血压患者196例，健康体检者192名，应用突变分离PCR法检测位点rs4961和rs28933400的多态性。结果rs4961位点的基因型和等位基因频率在病例组与对照组差异有统计学意义（P=0．03、P=0．04）；rs4961的基因型对收缩压、舒张压和Na^＋浓度的影响差异有统计学意义（P=0．00、P=0．04、P=0．01），对体重指数、K^＋浓度和Cl^-浓度变化的影响差异无统计学意义（P〉0．05）；rs28933400位点在该人群中缺乏多态性。结论ATPIA2基因的rs28933400位点在该人群中可能与原发性高血压无关，而ADD1基因的rs4961位点在该人群中则可能与原发性高血压有关。

Objective To investigate the association of the polymorphisms of rs4961 in α-adducin （ADD1） and rs28933400 in Na^＋/K^＋ ATPase a2 （ATPIA2） genes, the products of which are important for sodium transport, with essential hypertension. Methods 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. Results 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. Conclusion The rs4961 polymorphism of the ADD1 gene is associated with essential hypertension, but the rs28933400 locus in the ATPIA2 gene may have no association with essential hypertension in the studied population.