CDKN2B-AS1基因多态性与女性早发冠心病的相关性研究

发布时间：2018-12-29 15:30

【摘要】：目的:探讨CDKN2B-AS1基因位点rs4977574单核苷酸多态性(SNP)与女性早发冠心病的相关性。方法:采用病例对照研究,连续入选女性早发(65岁发病)冠心病患者226例(病例组)和同期冠状动脉造影阴性、年龄匹配的女性患者79例(对照组),采用小测序法(SNa Pshot技术)检测CDKN2B-AS1基因位点rs4977574多态性,同时测定血浆中总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)、甘油三酯(TG)、血尿酸(UA)、空腹血糖(FPG)及糖化血红蛋白(HbA1c)水平,评估rs4977574多态性与上述生物标志物的相关性。结果:与对照组相比,病例组血TG、UA、FPG、HbA1c水平明显升高(P0.05),校正年龄、体重指数、相关病史及危险因素后,高HbA1c(HbA1c6.2%)明显增加女性早发冠心病的发生风险(OR=3.35,95%CI:1.41~8.00,P=0.006);rs4977574基因型及等位基因频率在病例组和对照组中分布有显著差异(P0.05),病例组等位基因G频率明显高于对照组(OR=1.24,95%CI:1.05~1.48,P=0.019)。进一步分析发现,rs4977574多态性与高HbA1c相关;与AA基因型受试者相比,(GG+GA)基因型受试者中高HbA1c的发生率明显增加(OR=2.08,95%CI:1.11~3.89,P=0.022)。结论:CDKN2B-AS1基因SNP位点rs4977574多态性与女性早发冠心病相关,并与高HbA1c相关。
[Abstract]:Objective: to investigate the association of CDKN2B-AS1 locus rs4977574 single nucleotide polymorphism (SNP) with premature coronary heart disease in women. Methods: a case-control study was carried out in 226 women with premature coronary heart disease (65 years old) and 79 age-matched women (control group). CDKN2B-AS1 locus rs4977574 polymorphism was detected by small sequencing method (SNa Pshot). Plasma total cholesterol (TC), low density lipoprotein cholesterol (LDL-C) and high density lipoprotein cholesterol (HDL-C) were measured. The levels of fasting blood glucose (FPG) and glycosylated hemoglobin (HbA1c) in serum triglyceride (TG),) (UA), were evaluated to evaluate the correlation between rs4977574 polymorphism and these biomarkers. Results: compared with the control group, the serum TG,UA,FPG,HbA1c level in the case group was significantly higher than that in the control group (P0.05). High HbA1c (HbA1c6.2%) significantly increased the risk of premature coronary heart disease (OR=3.35,95%CI:1.41~8.00,P=0.006) in women. The genotype and allele frequency of rs4977574 were significantly different between the case group and the control group (P0.05). The G frequency of allele in the case group was significantly higher than that in the control group (OR=1.24,95%CI:1.05~1.48,P=0.019). Further analysis showed that rs4977574 polymorphism was associated with high HbA1c and the incidence of high HbA1c in, (GG GA) genotype was significantly higher than that in AA genotype (OR=2.08,95%CI:1.11~3.89,P=0.022). Conclusion: the rs4977574 polymorphism of SNP locus of CDKN2B-AS1 gene is associated with premature coronary heart disease and high HbA1c.
【作者单位】：北京协和医学院中国医学科学院国家心血管病中心阜外医院心内科;
【基金】：国家自然科学基金青年科学基金项目(81300156) 协和青年基金和中央高校基本科研业务费专项资金(3332015103)
【分类号】：R541.4

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