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目的探讨SLC22A3-LPAL2-LPA基因多态性与冠状动脉粥样硬化性心脏病(coronary artery disease,CAD)的相关性。方法用聚合酶链反应-单链构象多态性(PCR-SSCP)方法和核苷酸测序技术检测165例CAD患者和166例对照的SLC22A3-LPAL2-LPA基因多态性。结果 CAD组和对照组中rs2048327位点均检测出AA、AG基因型,GG基因型未检出,G等位基因频率组间有统计学差异(19.7%vs11.1%,P=0.002);rs3127599位点均检测出AG、GG基因型,AA基因型未检出,A等位基因频率组间有统计学差异(7.6%vs13.2%,P=0.017);rs7767084位点均检测出CC、CT、TT3种基因型,C等位基因频率组间差异有统计学意义(16.4%vs30.7%,P=0.000);rs10755578位点均检测出CG、GG基因型,CC基因型未检出,C等位基因频率组间有统计学差异(18.5%vs12.7%,P=0.038);使用Logistic回归分析排除年龄、吸烟、高血压等因素的影响后,除rs10755578位点外(P=0.077),其余各位点等位基因频率组间差异依然有统计学意义(P<0.05);单倍型AGC、AGT、GGC、GGT组间分布有统计学差异(P<0.05);分别比较各位点不同基因型的血脂水平,并未发现有统计学差异的指标(P>0.05)。结论 SLC22A3-LPAL2-LPA基因rs2048327、rs3127599、rs7767084多态性位点可能与CAD发病相关,携带AGT、GGC、GGT单倍型的人群罹患CAD的风险性可能较正常人高,各位点基因多态性可能与血脂水平无关。
Objective To investigate the association between SLC22A3-LPAL2-LPA gene polymorphism and coronary artery disease (CAD). Methods Polymorphisms of SLC22A3-LPAL2-LPA gene in 165 patients with CAD and 166 controls were detected by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and nucleotide sequencing. Results The genotypes of AA and AG were detected in rs2048327 locus in CAD group and control group. The genotypes of GG were not detected. The frequency of G allele was statistically different (19.7% vs 11.1%, P = 0.002). The AG and GG genotypes were detected in rs3127599 locus, but the AA genotype was not detected. There was a significant difference between the A allele frequencies (7.6% vs 13.2%, P = 0.017), rs7767084 locus CC (16.4% vs 30.7%, P = 0.000). The genotypes of CG and GG were detected in rs10755578 locus and the CC genotype was not detected (18.5% vs12.7%, P = 0.038). Logistic regression analysis excluded the influence of age, smoking, hypertension and other factors except for rs10755578 (P = 0.077). There was still significant difference in allele frequency among the other sites (P <0.05). There were significant differences among haplotype AGC, AGT, GGC and GGT (P <0.05) There was no statistically significant difference (P> 0.05) between the blood lipid levels of different genotypes at different sites. Conclusion The polymorphisms of rs2048327, rs3127599 and rs7767084 in SLC22A3-LPAL2-LPA gene may be associated with the pathogenesis of CAD. The population with AGT, GGC and GGT haplotypes may have a higher risk of CAD than normal subjects, Sex may not be related to blood lipid levels.