核苷酸和拷贝数变异对基因表达表型的相对影响。
Relative impact of nucleotide and copy number variation on gene expression phenotypes.
作者信息
Stranger Barbara E, Forrest Matthew S, Dunning Mark, Ingle Catherine E, Beazley Claude, Thorne Natalie, Redon Richard, Bird Christine P, de Grassi Anna, Lee Charles, Tyler-Smith Chris, Carter Nigel, Scherer Stephen W, Tavaré Simon, Deloukas Panagiotis, Hurles Matthew E, Dermitzakis Emmanouil T
机构信息
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
出版信息
Science. 2007 Feb 9;315(5813):848-53. doi: 10.1126/science.1136678.
Extensive studies are currently being performed to associate disease susceptibility with one form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years, another type of common genetic variation has been characterized, namely, structural variation, including copy number variants (CNVs). To determine the overall contribution of CNVs to complex phenotypes, we have performed association analyses of expression levels of 14,925 transcripts with SNPs and CNVs in individuals who are part of the International HapMap project. SNPs and CNVs captured 83.6% and 17.7% of the total detected genetic variation in gene expression, respectively, but the signals from the two types of variation had little overlap. Interrogation of the genome for both types of variants may be an effective way to elucidate the causes of complex phenotypes and disease in humans.
目前正在进行广泛的研究，以将疾病易感性与一种遗传变异形式，即单核苷酸多态性（SNP）联系起来。近年来，另一种常见的遗传变异类型已被鉴定出来，即结构变异，包括拷贝数变异（CNV）。为了确定CNV对复杂表型的总体贡献，我们对国际人类基因组单体型图计划（International HapMap project）中的个体进行了14925个转录本的表达水平与SNP和CNV的关联分析。SNP和CNV分别占基因表达中检测到的总遗传变异的83.6%和17.7%，但这两种变异类型的信号几乎没有重叠。对这两种类型的变异进行全基因组检测可能是阐明人类复杂表型和疾病原因的有效方法。
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