浆细胞膜糖蛋白-1基因单核苷酸多态性与冠心病的相关性研究

The association between single nucleotide polymorphisms of plasma cell membrane glycoprotein-1 gene and coronary artery disease

目的探讨浆细胞膜糖蛋白-1(plasma cell membrane glycoprotein-1,PC-1)基因的单核苷酸多态性(singlenucleotide polymorphism,SNP)与冠心病(coronary artery disease,CAD)的相关性。方法提取192例CAD患者和189例健康对照者外周血有核细胞DNA,应用荧光标记单碱基延伸分型技术及寡核苷酸微阵列芯片杂交技术检测PC-1基因的5个标签SNP:rs12528076,rs858341,rs2021966,rs9398995和rs858345。结果 rs9398995基因型中CAD组的TT型频率显著高于对照组,CC型频率显著低于对照组,两组间T和C等位基因频率差异有统计学意义(P<0.05)。rs12528076基型型中CAD组的TC型频率显著高于对照组(P<0.05)。由rs12528076、rs9398995和rs2021966构建的单倍型中,CCC和CTC的单倍型频率在两组间具有统计学差异(P<0.05)。结论 PC-1基因的rs12528076、rs9398995和rs2021966多态性与CAD相关。

Objective To investigate the association between single nucleotide polymorphisms （SNP） of plasma cell membrane glycoprotein - 1 （ PC - 1 ） gene and coronary artery disease （CAD）. Methods DNA samples of peripheral blood white cells were taken from 192 patients with CAD and 189 healthy individuals. Tag SNPs of rs12528076, rs858341 , rs2021966, rs9398995 and rs858345 in PC -1 gene were analyzed with allele -specific fluorogenic oligonucleotide probes in an assay combining extension with hybridization. Results For rs9398995, the frequency of TT genotype in CAD group was significantly higher and that of CC genotype was significantly lower than in control group （ P 〈 0.05 ）. The frequency of T and C alleles of rs9398995 was significantly different in both groups（ P 〈 0.05）. The frequency of TC genotype of rs12528076 in CAD group was significantly higher than that in control group （P 〈0.05）. The haplotypes of rs12528076, rs9398995 and rs2021966 were constructed and the resuhs showed that the frequency of CCC and CTC was significantly different in both groups（P 〈 0.05）. Conclusion rs12528076, rs9398995 and rs2021966 mutations in the PC - 1 gene are associated with CAD.