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东莞汉族人PCSK9基因SNP与冠心病及其预后关系探讨 被引量:5

Dongguan Han patients with coronary artery PCSK9 gene SNP and its prognosis
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摘要 目的探讨东莞汉族人PCSK9基因E670G位点SNP与冠心病(CAD)及其预后的关系。方法选择在该院CAD患者100例及非CAD患者100例为研究对象,取患者血液,提取DNA并采用PCR法分析PCSK9基因E670G位点SNP,并采用基因测序法验证。采用酶法检测患者血脂水平,并随访CAD患者采用他汀类治疗后血清脂质水平的变化、心血管事件发生率。结果冠心病(CAD)组血清总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)水平显著高于健康对照组,HDL-C显著低于健康对照组,差异具有统计学意义(P<0.05)。基因型主要为AA即298bp和152bp的纯合子,其次为AG即450bp和298bp、152bp的杂合子,尚未检测到450bp GG纯合子基因型,等位基因频率分布符合Hardy-Weinberg平衡。CAD组患者AA基因型的患者LDL-C水平显著低于AG基因型,HDL-C水平显著高于AG基因型的患者(P<0.05)。随访半年发生心血管的例数总共为27例,AA基因型占66.7%,AG基因型占33.3%,G等位基因携带者心血管事件例数和平均病变支数差异具有统计学意义(P<0.05)。结论 PCSK9基因E670G多态性与LDL-C、HDL-C水平及CAD病变程度相关,CAD患者中G等位基因的携带可能增加发病概率和再发病风险。 Objective To investigate the gene E670G SNP loci with coronary heart disease and its relationship Dongguan Han PCSK9 prognosis .Methods In our hospital 100 patients with coronary heart disease and 100 cases of non‐coronary heart disease patients for the study ,patients taking blood ,DNA was extracted and analyzed gene PCSK9 E670G SNP locus by PCR ,using gene sequencing validation .Lipid levels in patients using enzymatic detection and follow‐up of patients with coronary heart disease chan‐ges in serum lipid levels after statin therapy ,the incidence of cardiovascular events .Results CAD group TC ,LDL‐C levels were sig‐nificantly higher than the healthy control group ,HDL‐C was significantly lower than the healthy control group ,the difference was statistically significant (P<0 .05) .AA genotype that was mainly 298 bp and 152 bp of homozygotes ,followed by AG that was 450 bp and 298 bp ,152 bp heterozygotes ,had not been detected 450 bp GG homozygous genotype ,allele frequency distributions in Har‐dy‐Weinberg equilibrium .LDL‐C levels in patients with CAD patients was significantly lower than AA genotype AG genotype , HDL‐C levels were significantly higher in patients with AG genotype (P<0 .05) .Number of cardiovascular patients were followed up six months totaled 27 cases ,AA genotype accounted for 66 .7% ,AG genotype accounted for 33 .3% ,Gallele and the average number of cases of cardiovascular disease events count a statistically significant difference (P<0 .05) .Conclusion PCSK9 E670G polymorphism and LDL‐C ,HDL‐C levels and CAD severity gene‐related ,CAD patients carrying G allele may increase the risk of disease and the risk of again .
出处 《国际检验医学杂志》 CAS 2015年第12期1725-1727,共3页 International Journal of Laboratory Medicine
基金 东莞市科技局课题(201410515000088)
关键词 PCSK9基因 单核苷酸多态性 冠心病 预后 PCSK9gene single nucleotide polymorphism coronary heart disease prognosis
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  • 1郭志刚,吴平生,刘亚洋,王琦光,赖文岩.ABCA1基因R1587K及M883I与血脂及冠心病易感性的关联分析[J].广东医学,2007,28(3):378-381. 被引量:5
  • 2Jirholt P,Adiels M,Bore'n J.How does mutant proprotein convertase neural apoptosis-regulated convertase 1 induce autosomal dominant hypercholesterolemia [ J ]. Arterioscler Thromb Vasc Biol,2004,24(8) : 1334-1336.
  • 3Berge KE,Ose L,Leren TP.Missense mutations in the PCSK 9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy [J].Arterioscler Thromb Vasc Biol, 2006,26(5) : 1094-1100.
  • 4Chen SN,Ballantyne CM,Gotto AM,et al.Acommon PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronaryatherosclerosis [J].J Am Coil Cardiol,2005,45(10) : 1611-1619.
  • 5Kotowski IK, Pertsemlidis A, Luke A, et al.A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol [J].Am J Hum Genet, 2006,78 (3) : 410-422.
  • 6Scartezini M,Hubbart C,Whittall RA,et al.The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy UK men [J].Clin Sci (Lond), 2007, 113 (11):435-441.
  • 7Polisecki E,Peter I,Robertson M,et al.Genetic variation at the PCSK9 locus moderately lowers low-density lipoprotein cholesterol levels, but does not significantly lower vascular disease risk in an elderly population [ J ].Atherosclerosis, 2008,200 ( 1 ) : 95-101.
  • 8Evans D,Beil FU.The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women [ J ].BMC Med Genet, 2006,7 : 66.
  • 9Abifadel M,Varret M, Rabes JP,et al.Mutations in PCSK9 cause autosomal dominant hypercholesterolemia [J].Nat Genet,2003,34 (2) : 154-156.
  • 10Timms KM,Wagner S,Samuels ME,et al.A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree [ J ].Hum Genet, 2004,114 (4) : 349-353.

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