【摘要】 目的研究钠尿肽受体基因1(NPR1)G1023C多态性对扩张型心肌病(DCM)心力衰竭易感性和严重程度的影响。方法入选DCM组患者152例和正常对照组150例,采用PCR和DNA测序法检测NPR1基因G1023C位点的基因型,比较两组基因型和等位基因频率的差异,计算优势比(OR);测定并比较DCM组不同基因型患者各临床指标的差异。结果 DCM组和对照组基因型频率分布均符合Hardy-Weinberg平衡,具有群体代表性。DCM组GC+CC基因型频率比对照组高4.4%,GC+CC对GG的优势比为1.345,95%置信区间(95%CI)为0.747~2.423,差异无统计学意义(P>0.05)。DCM组突变型等位基因C频率比对照组高2.84%,C对G的优势比为1.385,95%CI为0.802~2.300,差异无统计学意义(P>0.05)。但是,DCM组GC+CC基因型患者的血浆N末端B型钠尿肽原(NT-pro BNP)浓度显著高于GG基因型患者(P<0.05)。结论 NPR1基因1023位点突变型等位基因C与DCM的易感性无关;突变型等位基因C与DCM患者的血浆NT-pro BNP浓度升高显著相关,提示突变型等位基因C可能与DCM心衰的严重程度有关。更多还原

【Abstract】 Objective To study the effects of the G1023 C polymorphism in natriuretic peptide receptor 1 gene(NPR1) on the susceptibility and severity of dilated cardiomyopathy(DCM) with heart failure. Methods 152 DCM patients and 150 healthy control subjects were selected. The G1023 C genotype of NPR1 in each patient was detected by means of PCR and DNA sequencing.Differences in genotype and allele frequencies of the two groups were compared, and the relative odds ratios(ORs) were calculated.The differences of the clinical indices of patients with different genotypes in the DCM group were determined and compared. Results The genotype frequencies in both of the control group and the DCM group obeyed the Hardy-Weinberg equilibrium, representing the whole population. The GC+CC genotype in the DCM group was 4.4% higher than that in the control group. The OR value of GC+CC to GG was 1.345, and 95% confidence interval(CI) was 0.747 ~ 2.423, but the difference was not significant(P>0.05). The mutant allele C in the DCM group was 2.84% higher than that in the control group. The OR value of C to G was 1.385, and 95% CI was 0.802 ~ 2.300, but the difference was not significant(P>0.05). However, in DCM group, the concentrations of plasma N-terminal B-type natriuretic peptide(NT-pro BNP) of patients with GC+CC genotype were significantly higher than those with GG genotype(P<0.05). Conclusion The 1023 point mutant allele C of NPR1 gene was not associated with susceptibility to DCM. Mutant allele C was significantly associated with the increased concentrations of plasma NT-pro BNP in DCM patients, suggesting that mutant allele C may be associated with the severity of DCM with heart failure.更多还原