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目的研究血管紧张素原基因(angiontensinogen,AGT)4个位点的单核苷酸多态及其构成的单倍型与海南黎族原发性高血压及原发性高血压并发脑梗死的相关性。方法选择海南黎族人群为研究对象,利用PCR直接测序法,在100例原发性高血压患者、100例原发性高血压并脑梗死患者和100例健康对照者中,对AGT基因启动子区域的-152(G-A),-20(A-C),-18(C-T),-6(A-G)多态进行基因分型。结果C-18T多态的基因型和T等位基因频率分布在原发性高血压组(P=0.003,P=0.004)和原发性高血压并脑梗死组(P=0.002,P=0.002)均比健康对照组显著增高。-6(A-G)多态的G等位基因频率在原发性高血压并脑梗死组显著高于健康对照组(P=0.016),而与原发性高血压组比较无显著性差异。单倍型分析提示,由-20C和-18T构成的H5单倍型在原发性高血压组中增加,与对照组相比有显著性差异(P=0.006);而由-20C和-6G构成的H6单倍型在原发性高血压并脑梗死组中明显增加,与对照组相比有显著性差异(P=0.003)。结论在海南黎族人群中,AGT基因的-20(A-C),-18(C-T)多态可能对原发性高血压的发病起了重要作用;-20(A-C),-18(C-T)和-6(A-G)多态可能是原发性高血压并脑梗死发病的遗传危险因素。
Objective To investigate the association of single nucleotide polymorphisms (SNPs) at four loci of angiotensinogen gene (AGT) and haplotypes of haplotypes with essential hypertension and essential hypertension complicated with cerebral infarction in Hainan Li ethnicity . Methods The Hainan Li population was selected as the research object. PCR direct sequencing was used to detect the AGT gene promoter region in 100 patients with essential hypertension, 100 patients with essential hypertension and cerebral infarction and 100 healthy controls. -152 (GA), -20 (AC), -18 (CT) and-6 (AG) polymorphisms. Results The frequencies of genotype and T allele of C-18T polymorphism were significantly higher in patients with essential hypertension (P = 0.003, P = 0.004) and patients with essential hypertension and cerebral infarction (P = 0.002, P = 0.002 ) Were significantly higher than the healthy control group. -6 (A-G) polymorphism was significantly higher in patients with essential hypertension and cerebral infarction than those in healthy controls (P = 0.016), but no significant difference compared with those in patients with essential hypertension. Haplotype analysis suggested that H5 haplotypes consisting of -20C and -18T increased in essential hypertension group compared with control group (P = 0.006) H6 haplotype formed significantly increased in patients with essential hypertension and cerebral infarction group, compared with the control group was significantly different (P = 0.003). CONCLUSION: The -20 (AC), - 18 (CT) polymorphisms of AGT gene may play an important role in the pathogenesis of essential hypertension in Hainan Li population. The expressions of -20 (AC), - 18 6 (AG) polymorphisms may be the genetic risk factors for the pathogenesis of essential hypertension and cerebral infarction.