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

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.