Ruixing Yin, Guangqin Chen, Yong Wang, Weixiong Lin, Dezhai Yang, Shangling Pan
Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Guangxi Medical University, Nanning, China.
BMC Med Genet. 2007 Jul 17;8:45. doi: 10.1186/1471-2350-8-45.
Apolipoprotein (Apo) B is the major component of low-density lipoprotein (LDL), very low-density lipoprotein (VLDL) and chylomicrons. Many genetic polymorphisms of the Apo B have been described, associated with variation of lipid levels. However, very few studies have evaluated the effect of the variable number of tandem repeats region 3' of the Apo B gene (3'APOB-VNTR) polymorphism on the lipid profiles in the special minority subgroups in China. Thus, the present study was undertaken to study the effect of the 3'APOB-VNTR polymorphism on the serum lipid levels in the Guangxi Hei Yi Zhuang and Han populations.
A total of 548 people of Hei Yi Zhuang were surveyed by a stratified randomized cluster sampling. The epidemiological survey was performed using internationally standardized methods. Serum lipid and apolipoprotein levels were measured. The 3'APOB-VNTR alleles were determined by polymerase chain reaction (PCR) followed by electrophoresis in polyacrylamide gels, and classified according to the number of repeats of a 15-bp hypervariable elements (HVE). The sequence of the most common allele was determined using the PCR and direct sequencing. The possible association between alleles of the 3'APOB-VNTR and lipid variables was examined. The results were compared with those in 496 people of Han who also live in that district.
Nineteen alleles ranging from 24 to 64 repeats were detected in both Hei Yi Zhuang and Han. HVE56 and HVE58 were not be detected in Hei Yi Zhuang whereas HVE48 and HVE62 were totally absent in Han. The frequencies of HVE26, HVE30, HVE46, heterozygote, and short alleles (< 38 repeats) were higher in Hei Yi Zhuang than in Han. But the frequencies of HVE34, HVE38, HVE40, homozygote, and long alleles (> or = 38 repeats) were lower in Hei Yi Zhuang than in Han (P < 0.05-0.01). The levels of total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and Apo B in Hei Yi Zhuang but not in Han were higher in VNTR-LS (carrier of one long and one short alleles) than in VNTR-LL (the individual carrying two long alleles) genotypes. The levels of TC, triglycerides (TG), LDL cholesterol, and Apo B in Hei Yi Zhuang were higher in both HVE34 and HVE36 alleles than in HVE32 allele. The levels of TC, TG, HDL-C and Apo B in Hei Yi Zhuang were also higher in homozygotes than in heterozygotes. There were no significant differences in the detected lipid parameters between the VNTR-SS (carrier of two short alleles) and VNTR-LS or VNTR-LL genotypes in both ethnic groups.
There were significant differences of the 3'APOB-VNTR polymorphism between the Hei Yi Zhuang and Han populations. An association between the 3'APOB-VNTR polymorphism and serum lipid levels was observed in the Hei Yi Zhuang but not in the Han populations.
载脂蛋白（Apo）B是低密度脂蛋白（LDL）、极低密度脂蛋白（VLDL）和乳糜微粒的主要成分。已描述了许多Apo B的基因多态性，其与血脂水平的变化相关。然而，很少有研究评估Apo B基因3'端串联重复序列区域（3'APOB-VNTR）多态性对中国特殊少数民族亚组血脂谱的影响。因此，本研究旨在探讨3'APOB-VNTR多态性对广西黑衣壮族和汉族人群血脂水平的影响。
采用分层随机整群抽样法对548名黑衣壮族人进行调查。采用国际标准化方法进行流行病学调查。测量血脂和载脂蛋白水平。通过聚合酶链反应（PCR），随后在聚丙烯酰胺凝胶中进行电泳来确定3'APOB-VNTR等位基因，并根据15个碱基对高变元件（HVE）的重复次数进行分类。使用PCR和直接测序确定最常见等位基因的序列。检查3'APOB-VNTR等位基因与血脂变量之间的可能关联。将结果与居住在该地区的496名汉族人的结果进行比较。
在黑衣壮族和汉族中均检测到19个等位基因，重复次数从24到64次不等。在黑衣壮族中未检测到HVE56和HVE58，而在汉族中完全没有HVE48和HVE62。黑衣壮族中HVE26、HVE30、HVE46、杂合子和短等位基因（<38次重复）的频率高于汉族。但黑衣壮族中HVE34、HVE38、HVE40、纯合子和长等位基因（≥38次重复）的频率低于汉族（P<0.05-0.01）。在黑衣壮族中，VNTR-LS（一个长等位基因和一个短等位基因的携带者）基因型的总胆固醇（TC）、高密度脂蛋白胆固醇（HDL-C）和Apo B水平高于VNTR-LL（携带两个长等位基因的个体）基因型，但在汉族中并非如此。黑衣壮族中HVE34和HVE36等位基因的TC、甘油三酯（TG）、低密度脂蛋白胆固醇和Apo B水平均高于HVE32等位基因。黑衣壮族中纯合子的TC、TG、HDL-C和Apo B水平也高于杂合子。在两个民族中，VNTR-SS（两个短等位基因的携带者）与VNTR-LS或VNTR-LL基因型之间检测到的血脂参数无显著差异。
黑衣壮族和汉族人群之间3'APOB-VNTR多态性存在显著差异。在黑衣壮族人群中观察到3'APOB-VNTR多态性与血脂水平之间存在关联，但在汉族人群中未观察到。
Zotero 插件
