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为了探讨ATPBindingCassetteTransporter1(ABCA1)基因R219K多态在中国汉族人群中的分布及其与冠心病(coronaryheartdisease,CHD)的关系,采用PCRRFLP方法,对396例CHD患者和417名正常人ABCA1基因R219K多态位点进行分析。结果表明,对照组R219K多态K等位基因及KK基因型的频率(0.465、0.228)较CHD组(0.381、0.162)显著增高(P<0.05);根据发病年龄分组,早发CHD组K等位基因及KK基因型频率(0.34、0.111)明显低于晚发CHD组(0.419、0.205)和对照组(P<0.05),而在对照组和晚发CHD组间无此频率差异显著性(P>0.05);KK基因型患者血浆甘油三酯(TG)水平较RR基因型显著降低(P<0.05);不同基因型患者间血浆高密度脂蛋白胆固醇(HDLC)水平差异无显著性(P>0.05)。提示ABCA1基因R219K多态与CHD存在相关性;KK基因型可能具有对抗动脉粥样硬化的作用,但这种作用不伴有血浆HDLC水平的改变。
In order to investigate the distribution of R219K polymorphism of ATPBinding Cassette Transgene (ABCA1) gene in Chinese Han population and its relationship with coronary heart disease (CHD), PCR-RFLP was used to detect polymorphisms of ABCA1 R219K in 396 CHD patients and 417 normal subjects Point for analysis. The results showed that the frequencies of R219K polymorphism KK allele and KK genotype in control group (0.465,0.228) were significantly higher than those in CHD group (0.381,0.162) (P <0.05). According to age of onset, KD The frequency of genotypes and KK genotypes (0.34,0.111) were significantly lower than those in the late onset CHD group (0.419,0.205) and the control group (P <0.05), but not between the control group and the late onset CHD group (P <0.05). The level of plasma triglyceride (TG) in patients with KK genotype was significantly lower than that in RR genotype (P <0.05). There was no significant difference in the level of plasma HDL between different genotypes > 0.05). Suggesting that the R219K polymorphism of ABCA1 gene is associated with CHD; KK genotype may have anti-atherosclerotic effect, but this effect is not associated with changes in plasma HDLC levels.