ABCA1基因R219K多态性与广西汉族心血管疾病的关系  

Relationship between the R219K Polymorphism of ATP-Binding Cassette Transporter 1 Gene and cardiovascular disease

作　　者：黄健[1] 黄文新[2] 夏中华[2] 马义丽[3] 胡春萍[3] 李红艳[3] 

机构地区：[1]桂林医学院基础医学院 [2]桂林医学院基础医学院附属医院心血管内科,广西桂林541004 [3]桂林医学院基础医学院生物化学与分子生物学教研室,广西桂林541004

出　　处：《华夏医学》2007年第6期1169-1172,共4页Acta Medicinae Sinica

基　　金：广西科学基金(桂科基0448081)

摘　　要：目的:探讨ATP结合盒转运子A1(ATP-Binding Cassette Transporter 1,ABCA1)基因R219K多态性与广西汉族心血管疾病的关系。方法:采用PCR-RFLP技术,对无血缘关系的心血管疾病人群113例和非心血管疾病人群61例的ABCA1基因R219K位点G→A(Arg219Lys)进行检测,分析其基因多态性。结果:在心血管疾病组中,除HDL比非心血管疾病组低外,其余血脂指标均高,其中TC、LDL与ApoB在两组间的差异有统计学意义(P<0.05)。广西汉族心血管疾病人群的RK型频率最高,RR型次之,KK型频率最低;心血管疾病组的KK基因型频率(0.129)低于非心血管疾病组(0.148),但差异无统计学意义(P>0.05)。RR、RK和KK三种基因型的血脂水平差异没有统计学意义(P>0.05),女性心血管疾病人群KK型的HDL比RR型的高(P>0.05),而KK型的TG和VLDL比RR型低(P<0.05)。结论:ABCA1基因R219K变异对心血管疾病可能具有保护作用,但具体保护机制及ABCA1基因R219K在心血管疾病人群中基因型分布频率也有待于更大样本的观察和进一步深入研究。Objective： To investigate the relationship between the R219K polymorphism of ATP-Binding Cassette Transporter 1 gene and cardiovascular disease in Han population of Guangxi. Methods ：PCR-RFLP was used to examine ABCA1 gene R219K polymorphism G→A（Arg219Lys） of 113 non-blood-related patients with cardiovascular disease and 61 without cardiovascular disease. Results：The findings showed that except that the HDL level in the cardiovascular disease group was lower than that in the control group, and the other blood lipid levels in the former group were higher than those in the latter group, among which the differences in TC, LDL, and ApoB between the two groups were statistically significant （P〈0. 05）. The highest frequency of ABCA1 R219K genetic variation was RK genotype ,the next was RR genotype and the lowest was KK genotype in Han population with cardiovascular disease of Guangxi Province. The KK genotype frequency in the cardiovascular disease group（0. 129） was lower than that in the control group（0. 148） （P〉0. 05）. No significant difference was found in blood lipid level among RR,RK and KK genotype （P〉0.05）. The KK genotype had an insignificantly higher HDL level （P〉0. 05） and a lower TG and VLDL level （P〈0. 05） than RR genotype in women patients with cardiovascular disease. Conclusion：ABCA1 R219K polymorphism may have a protective function against cardiovascular disease. More research work should be done to confirm the mechanism and the genotype frequency in cardiovascular disease group in the future.

关 键 词：ABCA1基因 单核苷酸多态性(SNP) 心血管疾病 

分 类 号：R541[医药卫生—心血管疾病]