Population genomics of human gene expression.
Population genomics of human gene expression.
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人类基因表达的群体基因组学。
作者：
遗传变异影响基因表达，这可以有效地映射到特定的基因组区域和变异。我们使用 HapMap 联盟所有 270 个个体的 EBV 转化淋巴母细胞系的基因表达谱来阐明基因表达变异背后的遗传变异的详细特征。我们发现基因表达水平是可遗传的，并且人群之间存在差异，这与早期的小规模研究一致。对每个群体超过 220 万个常见 SNP（频率为 5% HapMap）与基因表达的详细关联分析确定了至少 1348 个具有顺式关联信号的基因和至少 180 个具有反式关联信号的基因。在至少一个独立群体中，分别实现了 37% 的顺式信号和 15% 的反式信号的复制。我们的结果有力地支持了人类基因组中存在大量顺式调控变异。反式效应的检测是有限的，但表明调节变异可能是导致人类表型变异的关键主要效应。最后，我们探索了多种方法来改善基因表达变异分析的现状。
Genetic variation influences gene expression, and this can be efficiently mapped to specific genomic regions and variants. We used gene expression profiling of EBV-transformed lymphoblastoid cell lines of all 270 individuals of the HapMap consortium to elucidate the detailed features of genetic variation underlying gene expression variation. We find gene expression levels to be heritable and differentiation between populations in agreement with earlier small-scale studies. A detailed association analysis of over 2.2 million common SNPs per population (5% frequency HapMap) with gene expression identified at least 1348 genes with association signals in cis and at least 180 in trans. Replication in at least one independent population was achieved for 37% of cis- signals and 15% of trans- signals, respectively. Our results strongly support an abundance of cis- regulatory variation in the human genome. Detection of trans- effects is limited but suggests that regulatory variation may be the key primary effect contributing to phenotypic variation in humans. Finally, we explore a variety of methodologies that improve the current state of analysis of gene expression variation.
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影响因子：
30.8
作者：
通讯作者：
--
影响因子：
7
作者：
Kuhn, K;Baker, SC;Chee, MS
通讯作者：
Chee, MS
影响因子：
30.8
作者：
Drake, JA;Bird, C;Hirschhorn, JN
通讯作者：
Hirschhorn, JN
影响因子：
56.9
作者：
Dermitzakis, ET;Reymond, A;Antonarakis, SE
通讯作者：
Antonarakis, SE
影响因子：
4.7
作者：
Knight, JC
通讯作者：
Knight, JC