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【目的】探讨单纯性肥胖儿童载脂蛋白E(apolipoprotein E,ApoE)基因多态性的频率分布及对其血脂谱水平的影响。【方法】采用基因测序方法对100例单纯性肥胖儿童及100例正常对照组儿童进行ApoE基因多态性测定,另外抽取空腹静脉血作甘油三酯(triglyceride,TG)、胆固醇(total cholesterol,TC)、高密度脂蛋白(high-density lipo-protein cholesterol,HDL)、低密度脂蛋白(low-density lipoprotein cholesterol,LDL)、载脂蛋白A(apolipoprotein A,ApoA)、载脂蛋白B(apolipoprotein B,ApoB)检测,观察不同基因型和等位基因的分布情况,并与血脂的相关性进行分析。【结果】基因型E3/3频率分布最高,在70%之上,而含E3的杂合子(E2/3和E3/4)居中,二者之和超过20%,E2/2和E4/4表型的频率最低;与对照组比较,实验组肥胖儿童E2型等位基因有较高水平的TG(P<0.05),E3型有较高的TG、TC、LDL水平和较低HDL、ApoA水平(P<0.01),E4型有较高的TG、AopB水平和较低的HDL、ApoA水平(P<0.05);肥胖组儿童中,与E3相比较,E4具有较高的TG、ApoB值和较低的HDL值,差异有统计学意义(P<0.05),而E2具有较低的TC、LDL和ApoB水平,但是差异无统计学意义;携带不同等位基因的肥胖儿童的血脂异常率为E4>E3>E2(P<0.01)。【结论】ApoE3/3是分布频率最高的基因型,ApoE4等位基因是血脂异常的风险基因之一,与肥胖儿童的血脂异常存在显著相关性。
【Objective】 To investigate the frequency distribution of apolipoprotein E (ApoE) gene polymorphism in simple obesity children and its influence on the lipid profile. 【Methods】 ApoE gene polymorphism was determined in 100 children with simple obesity and 100 normal controls by gene sequencing method. Fasting venous blood was taken as triglyceride (TG), total cholesterol (TC) , High-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), apolipoprotein A (ApoA), apolipoprotein B , ApoB) test to observe the distribution of different genotypes and alleles, and the correlation with the blood lipids were analyzed. 【Result】 The genotype E3 / 3 had the highest frequency distribution above 70%, while the E3 containing heterozygotes (E2 / 3 and E3 / 4) were intermediate with the sum of more than 20%, E2 / 2 and E4 / 4 The frequency of phenotype was the lowest. Compared with the control group, E2 allele of obese children in experimental group had higher TG (P <0.05), E3 type had higher levels of TG, TC, LDL and lower HDL, ApoA (P <0.01), E4 had higher levels of TG, AopB and lower levels of HDL and ApoA (P <0.05). Compared with E3, E4 had higher TG and ApoB in obese children (P <0.05), while E2 had lower levels of TC, LDL and ApoB, but the difference was not statistically significant. The prevalence of dyslipidemia in obese children with different alleles E4> E3> E2 (P <0.01). 【Conclusion】 ApoE3 / 3 is the most frequently distributed genotype. ApoE4 allele is one of the risk factors for dyslipidemia, which is significantly associated with dyslipidemia in obese children.