93例儿童血脂谱水平与ApoB基因多态性关系的研究

Association between Levels of Plasma Lipid Profile with Apolipoprotein B Gene Polymorphism in 93 Children

目的观察儿童血脂谱水平与载脂蛋白Ｂ（ＡｐｏＢ）基因变异的关系。方法对９３名８～１１岁汉族儿童进行了ＡｐｏＢ基因ＸｂａⅠ位点多态性基因型频率及基因型与血脂谱水平关系的研究。结果此人群中ＸｂａⅠ位点优势等位基因Ｘ－频率为０．９６７，少见等位基因Ｘ＋频率为０．０３３；Ｘ－Ｘ＋基因型者（此人群中无Ｘ＋Ｘ＋者）血浆总胆固醇、低密度脂蛋白－胆固醇（ＬＤＬ－ｃｈ）水平均值（４．５９和２．９８ｍｍｏｌ／Ｌ）显著高于Ｘ－Ｘ－基因型者（３．８４和２．３２ｍｍｏｌ／Ｌ），全部６例Ｘ－Ｘ＋者中的４例，其总胆固醇和／或ＬＤＬ－ｃｈ测定值分别超过了Ｐ９０，显示了Ｘ＋等位基因与高血浆胆固醇水平的联系。结论ＡｐｏＢ基因ＸｂａⅠ位点多态性与儿童血脂谱水平有一定程度的关联，有可能是儿童血脂谱水平异常的遗传标志之一。

Objective To study the relationship between levels of plasma lipid profile and variation of apolipoprotein (Apo) B gene. Methods The relationship between frequency of polymorphism genotype of Apo B gene Xba I locus and levels of plasma lipid profile was studied in 93 children aged eight to eleven years. Results The frequency of dominant X- allele (common allele) in Xba I locus was 0.967 in the children and that of uncommon X+ allele 0.033. Average levels of plasma total cholesterol (TC) and low density lipoprotein cholesterol (LDL ch) in children with X-X+ genotype (4.59 and 2.98 mmol/L, respectively) were significantly higher than those with X-X- genotype (3.84 and 2.32 mmol/L, respectively). Levels of TC and/or LDL ch in 4 of 6, cases of X-X+ genotype exceeded their the 90th percentile, indicating association between X+ allele and high plasma cholesterol level. Conclusion To certain extent, there is association between polymorphism of Xba I locus of Apo B gene and levels of plasma lipid profile in children, which may be a genetic marker for abnormal level of plasma lipid profile during childhood.