Centre for Molecular Epidemiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Hum Mutat. 2010 Jul;31(7):851-7. doi: 10.1002/humu.21287.
Research on the role of copy number variations (CNVs) in the genetic risk of diseases in Asian populations has been hampered by a relative lack of reference CNV maps for Asian populations outside the East Asians. In this article, we report the population characteristics of CNVs in Chinese, Malay, and Asian Indian populations in Singapore. Using the Illumina Human 1M Beadchip array, we identify 1,174 CNV loci in these populations that corroborated with findings when the same samples were typed on the Affymetrix 6.0 platform. We identify 441 novel loci not previously reported in the Database of Genomic Variations (DGV). We observe a considerable number of loci that span all three populations and were previously unreported, as well as population-specific loci that are quite common in the respective populations. From this we observe the distribution of CNVs in the Asian Indian population to be considerably different from the Chinese and Malay populations. About half of the deletion loci and three-quarters of duplication loci overlap UCSC genes. Tens of loci show population differentiation and overlap with genes previously known to be associated with genetic risk of diseases. One of these loci is the CYP2A6 deletion, previously linked to reduced susceptibility to lung cancer.
对亚洲人群疾病遗传风险中拷贝数变异（CNVs）作用的研究因缺乏东亚以外亚洲人群的参考 CNV 图谱而受到阻碍。在本文中，我们报告了新加坡华人、马来人和印度裔人群的 CNV 群体特征。我们使用 Illumina Human 1M Beadchip 芯片在这些人群中鉴定出 1174 个 CNV 位点，与在 Affymetrix 6.0 平台上对相同样本进行分型时的结果一致。我们还鉴定出 441 个先前未在基因组变异数据库（DGV）中报道的新位点。我们观察到相当数量的跨越所有三个群体且以前未被报道的位点，以及在各自群体中相当常见的群体特异性位点。由此，我们观察到印度裔人群的 CNV 分布与华人和马来人群有很大不同。大约一半的缺失位点和四分之三的重复位点与 UCSC 基因重叠。数十个位点表现出群体分化，并与先前已知与疾病遗传风险相关的基因重叠。其中一个位点是 CYP2A6 缺失，先前与肺癌易感性降低有关。
