Fang AN, Xiu-juan WANG, Xue-wen LI, Ying LI, Ji-hong ZHAO, Hong-liang CONG. Effects of ABCA1 gene R219K and -565 C/T polymorphisms on premature coronary heart disease[J]. Chinese Heart Journal, 2023, 35(3): 279-284. DOI: 10.12125/j.chj.202204054
    Citation: Fang AN, Xiu-juan WANG, Xue-wen LI, Ying LI, Ji-hong ZHAO, Hong-liang CONG. Effects of ABCA1 gene R219K and -565 C/T polymorphisms on premature coronary heart disease[J]. Chinese Heart Journal, 2023, 35(3): 279-284. DOI: 10.12125/j.chj.202204054

    Effects of ABCA1 gene R219K and -565 C/T polymorphisms on premature coronary heart disease

    •   AIM   To investigate the effect of ABCA1 gene polymorphism (R219K, -565 C/T) on the risk of premature coronary artery disease (pCAD) by analyzing the relationship between ABCA1 gene polymorphism (R219K, -565 C/T) and clinical indicators such as blood lipid level and inflammatory mediators.
        METHODS  One hundred and twenty hospitalized premature coronary heart disease patients in the Department of Cardiology of our hospital from May to December 2020 were enrolled as pCAD group and 88 patients with normal coronary arteries from the physical examination center were selected as control group. PCR-RFLP method was used to detect ABCA1 (R219K, -565 C/T) gene polymorphism from whole blood.
        RESULTS   Compared with those in control group, the ratios of 219 RK+KK genotype, K allele and -565 C allele in pCAD group were significantly decreased (P<0.01), while the frequencies of 219R allele, -565 CT+TT genotype and T allele were higher (P<0.05). Plasma HDL-C levels of 219 RK+KK genotype were higher than those of RR genotype patients (P<0.05), but there were no significant differences in plasma TC, TG, LDL-C, ABCA1 content and inflammatory mediators between different genotypes. Logistic regression analysis showed that the risk of pCAD in KK and RK genotypes was respectively 70.7% (P<0.01) and 62.1% (P<0.05), lower than that in 219 RR genotypes. ABCA1-565 C/T polymorphism had no significant effect on the risk of pCAD and the severity of coronary artery lesions.
        CONCLUSION  ABCA1 219K allele is a protective factor of pCAD and it may play the role by regulating HDL-C level.
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