Alavantić D, Glisić S, Kandić I
Laboratory for Radiobiology and Molecular Genetics, VINCA Institute of Nuclear Sciences, Belgrade, Serbia.
Genet Epidemiol. 1998;15(2):113-22. doi: 10.1002/(SICI)1098-2272(1998)15:2<113::AID-GEPI1>3.0.CO;2-7.
We have analyzed allele frequency distribution at the hypervariable locus 3' to the apolipoprotein B gene in a healthy population sample (241 women and 246 men) from the Belgrade area. The bimodal distribution of sixteen different hypervariable region (HVR) alleles and the heterozygosity index (average 0.76) in both samples are similar to ones reported for other Caucasian populations. However, we found the hypervariable element containing 34 repeats-HVE34 allele to be the most common one in both female and male samples, and that there was a lower frequency of the HVE>36 alleles. For further analysis of 3'HVR allele frequency and its possible association with serum lipid levels, all HVR alleles were grouped into five main types (HVE<32, HVE32, HVE34, HVE36, and HVE>36), and the samples were divided into lipid quartiles. We found that (1) apo B gene 3'HVR polymorphism is associated with variation of normal lipid levels in males, (2) HVE32 alleles are associated with decreased serum levels of total cholesterol, LDL cholesterol, and triglycerides, and (3) HVR genotypes containing HVE34 and HVE36 alleles are associated with elevated serum levels of total cholesterol, low density lipoprotein (LDL) cholesterol, and triglycerides.
我们分析了来自贝尔格莱德地区的健康人群样本(241名女性和246名男性)中载脂蛋白B基因3'端高变位点的等位基因频率分布。两个样本中16种不同高变区(HVR)等位基因的双峰分布以及杂合度指数(平均0.76)与为其他高加索人群所报道的相似。然而,我们发现含有34个重复序列的高变元件——HVE34等位基因在女性和男性样本中都是最常见的,并且HVE>36等位基因的频率较低。为了进一步分析3'HVR等位基因频率及其与血脂水平的可能关联,所有HVR等位基因被分为五种主要类型(HVE<32、HVE32、HVE34、HVE36和HVE>36),样本被分为血脂四分位数。我们发现:(1)载脂蛋白B基因3'HVR多态性与男性正常血脂水平的变化相关;(2)HVE32等位基因与总胆固醇、低密度脂蛋白胆固醇和甘油三酯的血清水平降低相关;(3)含有HVE34和HVE36等位基因的HVR基因型与总胆固醇、低密度脂蛋白(LDL)胆固醇和甘油三酯的血清水平升高相关。