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目的:探讨肝脂酶(HL)的基因启动子514C/T多态性与高密度脂蛋白胆固醇(HDL-C)间的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测203例高HDL-C患者和156名HDL-C正常对照者(对照组)的HL基因启动子514C/T多态性及其基因型,并探讨其与血脂水平的关系。结果:高HDL-C组HL基因启动子514C/T位点的基因型及等位基因频率分布与对照组相比,差异均无统计学意义(P>0.05)。再按TG与TC水平将高HDL-C组再分成2组进行观察,高HDL-C组1[TG≥1.70 mmol/L和(或)TC≥5.72 mmol/L]的等位基因型频率与对照组比较,差异有统计学意义(P<0.05),而高HDL-C组2(TG<1.70 mmol/L且TC<5.72 mmol/L)的等位基因型频率与对照组比较则差异无统计学意义(P>0.05)。高HDL-C组1中CC型者除载脂蛋白A1(ApoA1)及ApoA1/ApoB100外,其他血脂指标均明显高于同基因型的对照组(P<0.05)。经过多元逐步Logistic回归分析,结果显示三酰甘油(TG)、总胆固醇(TC)与高HDL-C的发生有关(P<0.05),而载脂蛋白B100(ApoB100)则与高HDL-C的发生呈负相关。结论:HL基因启动子514C/T多态性可能与脂质代谢有关。
Objective: To investigate the relationship between the 514C / T polymorphism of hepatic lipase (HL) gene promoter and high density lipoprotein cholesterol (HDL-C). Methods: The HL-C promoter 514C / T of 203 patients with high HDL-C and 156 patients with HDL-C were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Polymorphism and its genotype, and to explore its relationship with blood lipid levels. Results: There was no significant difference in the genotype and allele frequencies of the 514C / T locus in HLD promoter between high HDL-C group and control group (P> 0.05). The HDL-C groups were further divided into two groups according to TG and TC levels. The allele frequencies of high HDL-C group 1 [TG≥1.70 mmol / L and / or TC≥5.72 mmol / L] and The difference was statistically significant (P <0.05), while the frequency of alleles in high HDL-C group 2 (TG <1.70 mmol / L and TC <5.72 mmol / L) Statistical significance (P> 0.05). In CCL patients with high HDL-C group 1, all the other lipids were significantly higher than those of the same genotype (P <0.05) except apolipoprotein A1 (ApoA1) and ApoA1 / ApoB100. Logistic regression analysis showed that triglyceride (TG) and total cholesterol (TC) were associated with high HDL-C (P <0.05), while apolipoprotein B100 (ApoB100) was associated with high HDL-C Negative correlation occurred. Conclusion: The 514C / T polymorphism of HL gene may be related to lipid metabolism.