Renges H H, Wile D B, McKeigue P M, Marmot M G, Humphries S E
Arterial Diseases Research Group, Charing Cross Sunley Research Centre, Hammersmith, London, U.K.
Atherosclerosis. 1991 Dec;91(3):267-75. doi: 10.1016/0021-9150(91)90174-2.
Three polymorphic sites of the apolipoprotein B gene - the insertion/deletion signal peptide, XbaI and EcoRI sites - were examined in a sample of 107 healthy men and in 46 men with evidence of coronary heart disease selected from a large population survey of South Asians aged 40-69 in London, U.K. There were no significant differences in allele frequencies between cases and controls. Frequencies of the ins (insertion) and X- (absence of XbaI cutting site) alleles were higher in South Asians than in Europeans studied previously (South Asians versus Europeans ins: 0.80 vs. 0.68, P less than 0.025; X-: 0.71 vs. 0.47-0.56, P less than 0.001). The del allele was associated with higher levels of total cholesterol (P less than 0.05) and the X+ allele with lower levels of HDL cholesterol (P less than 0.05), and thus both polymorphisms were associated with differences in the ratio of HDL cholesterol to total cholesterol (ins/del, P less than 0.01; XbaI, P less than 0.001). Mean waist-hip girth ratio was lower in the 10 men homozygous for the X+ allele than in the 42 men with X-/X+ and 55 men with X-/X- genotypes; the means (+/- SEM) were 0.92 +/- 0.02, 0.97 +/- 0.01 and 0.96 +/- 0.01 respectively (P = 0.03). These data suggest that genetic variation in linkage disequilibrium with the XbaI and ins/del polymorphisms of the apo B gene contributes to the determination of total cholesterol and HDL cholesterol levels and possibly to obesity in South Asians.
在英国伦敦对40 - 69岁的南亚人群进行的一项大规模调查中，选取了107名健康男性和46名有冠心病证据的男性样本，检测了载脂蛋白B基因的三个多态性位点——插入/缺失信号肽、XbaI和EcoRI位点。病例组和对照组之间的等位基因频率没有显著差异。南亚人群中ins（插入）和X -（无XbaI切割位点）等位基因的频率高于先前研究的欧洲人群（南亚人群与欧洲人群相比，ins：0.80对0.68，P < 0.025；X -：0.71对0.47 - 0.56，P < 0.001）。del等位基因与总胆固醇水平较高相关（P < 0.05），X +等位基因与高密度脂蛋白胆固醇水平较低相关（P < 0.05），因此这两种多态性都与高密度脂蛋白胆固醇与总胆固醇的比值差异有关（ins/del，P < 0.01；XbaI，P < 0.001）。X +等位基因纯合的10名男性的平均腰臀围比低于X - /X +基因型的42名男性和X - /X -基因型的55名男性；平均值（±SEM）分别为0.92±0.02、0.97±0.01和0.96±0.01（P = 0.03）。这些数据表明，与载脂蛋白B基因的XbaI和ins/del多态性处于连锁不平衡状态的遗传变异有助于南亚人群总胆固醇和高密度脂蛋白胆固醇水平的测定，并且可能与肥胖有关。
