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载脂蛋白 B 基因 3'端微卫星的高度变异性:中国中部汉族儿童的等位基因分布及其对血脂谱的影响。

Hypervariability in a minisatellite 3' of the apolipoprotein B gene: allelic distribution and influence on lipid profiles in Han Children from central China.

机构信息

Department of Pediatrics, The First Affiliated Hospital of Anhui Medical University, Hefei, PR China.

出版信息

Clin Chim Acta. 2010 Dec 14;411(23-24):2092-6. doi: 10.1016/j.cca.2010.09.010. Epub 2010 Sep 15.

DOI:10.1016/j.cca.2010.09.010
PMID:20837003
Abstract

BACKGROUND

Apolipoprotein B (apoB) gene 3' variable number tandem repeat (VNTR) is highly variable, and thereby be considered as an informative marker for associative analysis of lipid metabolism.

METHODS

We conducted this study to probe the effect of apoB 3' VNTR alleles on lipid profiles in 500 Han children from central China, and to compare the allelic distribution of our subjects with multiple Chinese populations. 14 different alleles of the apoB gene 3' VNTR comprising from HVE22 to HVE44 were identified in our subjects.

RESULTS

Allele size distribution followed unimodal curve with the main peak at HVE35 (58.0%). We detected 37 genotypes in this sampling, the most frequently seen was HVE35/35 with a frequency of 36.4%. M/L carriers had significantly higher total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apoB concentrations than did S/S, M/M or S/M carriers (p<0.05). Individuals with L allele exhibited significantly higher TC, LDL-C, and apoB levels than those with M or S allele (p<0.05). The allelic distribution in Central Han Chinese differed from Southern Han Chinese (X(2)=41.2, p=0.00), Zhuang Chinese (X(2)=65.4, p=0.00), and Uighur Chinese (X(2)=45.6, p=0.00). No significant differences in allelic frequencies were observed for apoB 3' VNTR in Central Han Chinese as compared to Northern Han Chinese (X(2)=2.5, p=0.29).

CONCLUSION

This study identified the higher repeat alleles as potential risk factor for dyslipidemia in Han children from Central China. Although five Chinese populations demonstrated uniformly unimodal distributions of allelic frequencies with the main peaks at HVE32-HVE37, there was obvious heterogeneity among these populations.

摘要

背景

载脂蛋白 B(apoB)基因 3'可变数串联重复(VNTR)高度可变,因此被认为是脂质代谢关联分析的一个信息性标记。

方法

我们进行了这项研究,以探讨 apoB 3'VNTR 等位基因对中国中部 500 名汉族儿童血脂谱的影响,并比较我们研究对象与多个中国人群的等位基因分布。在我们的研究对象中,鉴定出 apoB 基因 3'VNTR 的 14 种不同等位基因,从 HVE22 到 HVE44。

结果

等位基因大小分布呈单峰曲线,主峰位于 HVE35(58.0%)。在这个样本中,我们检测到 37 种基因型,最常见的是 HVE35/35,频率为 36.4%。M/L 携带者的总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)和 apoB 浓度明显高于 S/S、M/M 或 S/M 携带者(p<0.05)。L 等位基因个体的 TC、LDL-C 和 apoB 水平明显高于 M 或 S 等位基因个体(p<0.05)。与南方汉族(X(2)=41.2,p=0.00)、壮族(X(2)=65.4,p=0.00)和维吾尔族(X(2)=45.6,p=0.00)相比,中部汉族的等位基因分布存在显著差异。与北方汉族(X(2)=2.5,p=0.29)相比,中部汉族 apoB 3'VNTR 的等位基因频率无显著差异。

结论

本研究确定了较高的重复等位基因是中国中部汉族儿童血脂异常的潜在危险因素。尽管五个中国人群的等位基因频率分布均呈单峰分布,主峰位于 HVE32-HVE37,但这些人群之间存在明显的异质性。

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