载脂蛋白A5、C3基因多态性与急性冠脉综合征及合并高血压关系

Association of APOA5,C3 polymorphisms with acute coronary syndromes and complicated hypertension

目的分析APOA5-1131T〉C、APOC3 3238C〉G基因多态性与急性冠脉综合征（ACS）及ACS合并高血压的关系。方法用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）技术分析223例ACS患者及201例健康对照者基因型,并选取部分DNA进行测序验证,用全自动生化分析仪测定血脂水平,并用Shesis软件进行Hardy-Weinberg平衡吻合性检验和单倍型分析。结果 APOA5-1131T〉C及APOC3 3238C〉G在ACS组和健康对照组中均具有群体代表性（P〉0.05）,两位点SNP无明显连锁不平衡（D＇=0.172,r2=0.024）;与健康对照组比较,ACS组APOA5-1131T〉C TC、CC基因型和C等位基因频率显著升高（P〈0.05）,而APOC3 3238C〉G差异无统计学意义（P〉0.05）。血清TG水平在APOA5-1131T〉C及APOC3 3238C〉G的3种基因型间差异均有统计学意义（P均〈0.05）。APOA5-1131T〉C分析显示,ACS合并高血压与健康对照组比较,TC、CC、TC＋CC与TT基因型比较差异有统计学意义（P〈0.05）,T及C等位基因间差异亦有统计学意义（P〈0.01）;危险因素分析结果显示,-1131C等位基因与ACS密切相关[OR（95%CI）=1.62（1.12～2.17）]。单倍型分析结果显示,H2和H4型在ACS组和健康对照组中差异有统计学意义（P〈0.01）。结论 APOA5-1131C等位基因与ACS及ACS合并高血压密切相关、APOC3 3238C〉G未发现与ACS相关,两位点SNP均与ACS患者TG水平升高有关。

Objective To investigate the association of single nucleotide polymorphisms （SNPs） of apolipoprotein A5 （APOA5） and apolipoprotein C3 （APOC3） in patients with acute coronary syndrome （ACS） and ACS- complicated hypertension. Methods Poly- merase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique was used to analyze the genotypes of 223 ACS patients and 201 healthy controls. The genetypes of partial samples were verified by DNA sequencing analysis. The blood lipid data were determined by automatic biochemistry analyzer. Hardy-Weinberg equilibrium test and haplotypes analysis were carried out by She- sis sofeware. Results The gene frequencies of APOA5-1131T 〉 C and APOC3 3238C 〉 G in ACS patients and controls showed demo- graphic representation （P 〉0.05）. No obvious linkage disequilibrium （LD） was shown between the two SNPs （D＇ = 0. 172, r2 = 0. 024）. Comparing with controls, the frequencies of APOAS-113 IT 〉 C genetype of TC, CC and C allele in ACS group were markedly increased （ P 〈 0.05 ）, but those of APOC3 3238C 〉 G showed no significanttly different （ P 〉 O. 05 ）. The serum triglyceride levels were significanttly different among the three genetypes of APOA5-1131T 〉 C and APOC3 3238C 〉 G （P 〈 0.05）. Comparing with con- trols, the ACS patients with hypertension showed significantlly different in the genetypes of APOA5-113IT 〉 C TC, CC and TC ＋ CC with TT（P 〈 0.05 ）. Significant difference between C and T allele also showed （P 〈 0.01 ）. -1131C allele was closely correlated with ACS by the analysis of risk factors OR （95% CI） 1.62 （1.12-2.17）. Significant differences of frequencies of haplotype H2 and 1-I4 were shown between ACS and control groups （P 〈 0.01 ）. Conclusion APOA5-1131C alleles should be remarkably associated with ACS and complicated hypertension. No correlation was found between APOC3 3238C 〉 G and ACS. The two SNPs may correlate with elevated triglyceride levels in serum of ACS patients.