Saha N, Tay J S, Heng C K, Humphries S E
Department of Paediatrics, National University of Singapore.
Clin Genet. 1993 Sep;44(3):113-20. doi: 10.1111/j.1399-0004.1993.tb03861.x.
Three DNA polymorphisms (Ins/Del, XbaI and EcoRI) of the apolipoprotein B gene and their influence on body-mass index, serum lipids and apolipoprotein levels were studied in 181 healthy Indians of both sexes (121 males and 60 females), aged between 17 and 71 years. The frequencies of X+ (XbaI) and Del (Ins/Del) of the signal peptide region in Indians were found to be significantly lower (0.17 and 0.11, respectively) compared to the frequencies in Caucasians (0.50 and 0.32, respectively) (P < 0.025). The frequency of E- (EcoRI) was similar to that in Caucasians (0.10 vs 0.15). A highly significant linkage disequilibrium was observed between the XbaI site and Ins/Del polymorphism of the apo B gene in this sample (X2 = 31.9, P < 0.001). The simultaneous presence of Del and X+ allele was significantly associated with higher body mass index (X2 = 11.43, P < 0.005), serum total cholesterol (X2 = 5.11; P < 0.025) and triglyceride (X2 = 6.42; P < 0.025) levels. Mean values of adjusted BMI and serum triglyceride levels were found to be 29.0 +/- 1.92 vs 23.7 +/- 0.67 (P < 0.025) and 278.0 +/- 60.78 vs 140.4 +/- 15.43 mg/dl (P < 0.05), respectively, in subjects with Del and X+ compared to others. The multiple regression tests showed that 3.3 and 5.8% of the total variability of BMI is explained by Ins/Del and XbaI polymorphism, respectively, in this sample (P = 0.06 and 0.02), while 3.8% of serum triglyceride levels was explained by Ins/Del polymorphism of the apo B gene (P = 0.04).(ABSTRACT TRUNCATED AT 250 WORDS)
在181名年龄在17至71岁之间的健康印度男女(121名男性和60名女性)中,研究了载脂蛋白B基因的三种DNA多态性(插入/缺失、XbaI和EcoRI)及其对体重指数、血脂和载脂蛋白水平的影响。与高加索人(分别为0.50和0.32)相比,印度人信号肽区域的X+(XbaI)和Del(插入/缺失)频率显著较低(分别为0.17和0.11)(P<0.025)。E-(EcoRI)的频率与高加索人相似(0.10对0.15)。在该样本中,观察到XbaI位点与载脂蛋白B基因的插入/缺失多态性之间存在高度显著的连锁不平衡(X2=31.9,P<0.001)。Del和X+等位基因同时存在与较高的体重指数(X2=11.43,P<0.005)、血清总胆固醇(X2=5.11;P<0.025)和甘油三酯(X2=6.42;P<0.025)水平显著相关。与其他受试者相比,Del和X+受试者的调整后BMI和血清甘油三酯水平的平均值分别为29.0±1.92对23.7±0.67(P<0.025)和278.0±60.78对140.4±15.43mg/dl(P<0.05)。多元回归测试表明,在该样本中,BMI总变异性的3.3%和5.8%分别由插入/缺失和XbaI多态性解释(P=0.06和0.02),而载脂蛋白B基因的插入/缺失多态性解释了3.8%的血清甘油三酯水平(P=0.04)。(摘要截断于250字)