广西黑衣壮族人群载脂蛋白B基因3′端高可变区等位基因多态性与血脂水平的关系

Relationship between the polymorphism of the variable number of tandem repeats region 3＇ of the apolipoprotein B gene and serum lipid levels in the Guangxi Heiyi Zhuang populations

目的研究广西黑衣壮族人群载脂蛋白B基因3′端高可变区等位基因（variable number of tan-dem repeats region3′of apolipoprotein Bgene,3′APOB-VNTR）多态性及其与血脂水平的关系。方法采用整群抽样方法对548名黑衣壮族人群进行流行病学调查及测定血脂和载脂蛋白水平;用聚合酶链反应和琼脂糖凝胶电泳法检测3′APOB-VNTR等位基因及其基因型的分布频率;对黑衣壮最常见的等位基因进行测序验证。并将其结果与496名当地的汉族人群作比较。结果两组人群均可检出19种高可变区等位基因（hy-pervariable elements,HVE）,分别为HVE24、26、28、30、32、34、36、38、40、42、44、46、48、50、52、54、56、58、60、62和64,但黑衣壮族人群未检出HVE56和58,汉族人群未发现HVE48和62。黑衣壮族人群以HVE32的频率最高（25.9%）,而汉族人群则以HVE34最常见（27.2%）。黑衣壮族人群HVE26、30、46、杂合子和小等位基因（HVE〈38,S）的频率明显高于汉族人群,而HVE34、38、40、纯合子和大等位基因（HVE≥38,L）的频率则明显低于汉族人群。黑衣壮族人群带VNTR-LS基因型者的总胆固醇、高密度脂蛋白-胆固醇和载脂蛋白B水平明显高于VNTR-LL者。黑衣壮族人群纯合子者总胆固醇、高密度脂蛋白-胆固醇和载脂蛋白B水平也明显高于杂合子者。两民族组VNTR-SS基因型者的血脂水平与VNTR-LS或VNTR-LL基因型者比较差异无统计学意义。结论本研究结果显示广西黑衣壮族人群3′APOB-VNTR多态性的分布与汉族人群之间存在差异,黑衣壮族人群3′APOB-VNTR多态性与血脂水平有关联。

Objective To study the relationship between the polymorphism of the variable number of tandem repeats region 3＇ of the apohpoprotein B gene （3＇APOB-VNTR） and serum lipid levels in the Guangxi Heiyi Zhuang population. Methods A total of 548 people of Heiyi Zhuang nationatity were surveyed by a cluster samphng. Epidemiologi- cal data were collected and serum lipid and apolipoprotein levels were measured. The genotypes and alleles of the 3＇ APOB-VNTR were determined by polymerase chain reaction combined with gel electrophoresis, and then analyzed by di- rect sequencing in the most common alleles. The results were compared with those in 496 people of Han nationality also hve in that district. Results qlaere were 19 alleles of the 3＇APOB-VNTR in both ethnic groups. They were hypervariable elements （HVEs） 24, 26, 28, 30, 32, 34, 36, 38, 40, 42, 44, 46, 48, 50, 52, 54, 56, 58, 60, 62 and 64, but HVEs 56 and 58 in Heiyi Zhuang nationality and liVEs 48 and 62 in Han nationality were not be detected. The most common allele is HVE32 in Heiyi and Zhuang nationality （25.9%）, and HVE34 in Han nationality （27.2%）. The frequencies of HVEs 26, 30, 46, heterozygote, and short alleles （ 〈 38 repeats, S） were higher in Heiyi Zhuang nationality than in Hart nationality, whereas the frequencies of HVEs 34, 38, 40, homozygote, and long alleles （ ≥38 repeats, L） were lower in Heiyi Zhuang nationality than in Han nationality, The levels of total cholesterol （TC）, high-density lipoprotein cholesterol （HDL-C） and apolipoprotein （apo） B in Heiyi Zhuang nationality were higher in VNTR-LS （cartier of one long and one short alleles） than in VNTR-LL genotypes （the individual carrying two long alleles） genotypes. The levels of TC, triglycerides, HDL-C and apo B in Heiyi Zhuang nationality 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. Conclusion The 3＇APOB-VNTR polymorphism is found to be significant difference between Heiyi Zhuang nationality and Han populations, and is associated with the serum lipid levels in Heiyi Zhuang nahonality but not in Han nationality.