ADAMTS-1基因多态性与汉族人群原发性高血压相关性研究

摘要

Objective To assess the association of a disintegrin and metallo-proteinase with thrombospondin type one motifs(ADAMTS1) gene polymorphism with essential hypertension (EH) in Zhejiang Han population.Methods The study enrolled 469 EH patients and 229 normotensive subjects (NT) from Zhejiang Han population.DNA was isolated from the peripheral blood cells using a human blood DNA extraction kit.The single nucleotide polymorphisms (SNP) rs402007 (G/C) were genotyped by polymerase chain reaction (PCR) and DNA sequencing.Hardy-Weinberg equilibrium was used to detect group representation of study population,Results The frequency of rs402007 GC+CC and the C allele were significantly different between the two groups (74.20％ vs.65.50％,x2=5.695,P=0.020,0R=1.515;47.44％ vs.40.61％,x2=5.796,.P=0.016,OR=1.320).Binary logistic regression showed that the difference above was still significant (P=-0.028,OR=1.809,95％CI:1.067-3.067).Conclusion The rs402007 polymorphism of ADAMTS-1 may be associated with essential hypertension in Han population and the C allele may be a genetic susceptibility factor.%目的 探讨汉族人群原发性高血压与含血小板反应素的去解联金属蛋白酶1(ADAMTS-1)基因启动子区rs402007(G/C)位点多态性的关联.方法 提取汉族469例原发性高血压患者和229例血压正常的健康体检者(正常对照组)外周血液中的基因组DNA.采用多聚酶链反应和基因测序法对包含rs402007多态性位点在内的ADAMTS-1基因-99/+447目的片段进行基因检测,并进行Hardy-Weinberg平衡检验,检测研究群体有无群体代表性.结果 原发性高血压组rs402007位点GC+CC基因型频率、C等位基因频率均高于正常对照组,差异均有统计学意义(均P＜0.05).校正危险因素后,两组间GC+CC基因型频率差异仍有统计学意义(P=0.028,OR=1.809,95％CI:1.067～3.067).结论 ADAMTS-1基因rs402007位点多态性与汉族人群原发性高血压患病相关,C等位基因可能是原发性高血压的易感等位基因.