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目的探讨ATP结合盒转运子1(ABCA1)基因I883M多态性与广西地区汉族人群心血管疾病的关系。方法采用PCR-RFLP技术对无血缘关系的心血管疾病患者227例(患者组)和非心血管疾病患者162例(对照组)的ABCA1基因I883M位点A→G进行检测,分析其基因多态性与心血管疾病的关系。结果ABCA1基因I883M等位基因频率在对照组中分别为I=0.213和M=0.787,患者组中分别为I=0.335和M=0.665;三种基因型频率在对照组中分别为:II=4.32%(7/162),IM=33.95%(55/162),MM=61.73%(100/162);患者组中分别为:II=10.57%(24/227),IM=45.81%(104/227),MM=43.61%(99/227),两组等位基因频率和基因型分布比较有显著统计学意义(P均<0.01);对照组的突变型(IM+MM)基因型频率95.68%(155/162)显著高于患者组的89.43%(203/227)(P<0.05),其中对照组的MM纯合子突变型频率61.73%(100/162)也显著高于患者组的43.61%(99/227)(P<0.01)。结论ABCA1基因I883M多态性与广西汉族人群的心血管疾病发生有关。
Objective To investigate the association between ATP-binding cassette transporter 1 (ICA) gene I883M polymorphism and cardiovascular disease in Han nationality in Guangxi province. Methods PCR-RFLP was used to detect ABCA1 I883M A → G in 227 unrelated patients with cardiovascular disease and 162 patients without cardiovascular disease (control group), and the genetic polymorphism Sex and cardiovascular disease. Results The frequency of I883M allele in ABCA1 gene was I = 0.213 and M = 0.787 in the control group, and I = 0.335 and M = 0.665 in the control group. The frequencies of the three genotypes in the control group were II = 4.32 (7/162), IM = 33.95% (55/162) and MM = 61.73% (100/162) respectively. The patients in the treatment group had II = 10.57% (24/227) and IM = 45.81% 227), and MM = 43.61% (99/227). The frequencies of alleles and genotype distribution in the two groups were statistically significant (all P <0.01). The frequency of the mutant (IM + MM) genotype in the control group was 95.68 % (155/162) was significantly higher than that of patients (89.43%, 203/227) (P <0.05). The frequency of MM homozygous mutation in control group was 61.73% (100/162), which was significantly higher than that in patient group % (99/227) (P <0.01). Conclusion The ABCA1 gene I883M polymorphism is associated with cardiovascular disease in Guangxi Han population.