Choong M L, Koay E S, Khaw M C, Aw T C
Department of Pathology, National University Hospital, Singapore.
Hum Hered. 1999 Jan;49(1):31-40. doi: 10.1159/000022837.
The allele frequencies for the apolipoprotein B (apo B) 5'-Ins/Del and 3'-VNTR polymorphisms varied significantly (p < 0.01) among Singaporeans of Chinese, Malay and Indian descent. We calculated the unbiased expected heterozygosities for the 5'-Ins/Del polymorphism as 0.3357, 0.1984 and 0.2418, and for the 3'-VNTR as 0.5980, 0.5260 and 0.6749, respectively, in the Chinese, Malays and Indians. Compared to heterozygosities reported for other populations, the Singaporeans differed from most Caucasians in having significantly lower values but were closely related to other non-Caucasians. Thirteen alleles, with a bimodal distribution, were observed at the 3'-VNTR polymorphic locus; the alleles occurring most frequently among the Chinese and Malays were of 35 or 53 repeats, and among the Indians, of 37 or 47 repeats. The Del allele was associated with elevated serum cholesterol (p = 0.023), LDL-cholesterol (LDL-C) (p = 0.001) in the Chinese, and apo B (p = 0.007) in the Indians. Likewise, the larger 3'-VNTR alleles (> 41 repeats) were associated with raised cholesterol (p = 0.018), LDL-C (p = 0.025), and triglyceride (p = 0.001) in the Chinese. The two polymorphisms were not in significant linkage disequilibrium (D = -0.0029, p = 0.494) in the three ethnic groups.
载脂蛋白B（apo B）5'-插入/缺失和3'-可变数目串联重复多态性的等位基因频率在华裔、马来裔和印度裔新加坡人中存在显著差异（p < 0.01）。我们计算出华裔、马来裔和印度裔中5'-插入/缺失多态性的无偏期望杂合度分别为0.3357、0.1984和0.2418，3'-可变数目串联重复多态性的无偏期望杂合度分别为0.5980、0.5260和0.6749。与其他人群报道的杂合度相比，新加坡人与大多数高加索人不同，其杂合度值显著较低，但与其他非高加索人密切相关。在3'-可变数目串联重复多态性位点观察到13个呈双峰分布的等位基因；在华裔和马来裔中最常见的等位基因是35或53次重复，在印度裔中是37或47次重复。在华裔中，缺失等位基因与血清胆固醇升高（p = 0.023）、低密度脂蛋白胆固醇（LDL-C）升高（p = 0.001）相关，在印度裔中与载脂蛋白B升高（p = 0.007）相关。同样，在华裔中，较大的3'-可变数目串联重复等位基因（> 41次重复）与胆固醇升高（p = 0.018）、LDL-C升高（p = 0.025）和甘油三酯升高（p = 0.001）相关。在这三个种族群体中，这两种多态性不存在显著的连锁不平衡（D = -0.0029，p = 0.494）。
