Genetic variability in the regulation of gene expression in ten regions of the human brain.
Genetic variability in the regulation of gene expression in ten regions of the human brain.
复制标题
DOI：
10.1038/nn.3801
复制
发表时间：
2014-10
影响因子：
25
通讯作者：
Weale, Michael E.
中科院分区：
文献类型：
--
作者：
Ramasamy, Adaikalavan;Trabzuni, Daniah;Guelfi, Sebastian;Varghese, Vibin;Smith, Colin;Walker, Robert;De, Tisham;Coin, Lachlan;de Silva, Rohan;Cookson, Mark R.;Singleton, Andrew B.;Hardy, John;Ryten, Mina;Weale, Michael E.
基因表达的种系遗传控制通过表达数量性状位点（eQTLs）实现。我们提出了一个大的，外显子特异性的eQTL数据集，涵盖了10个人类大脑区域。我们发现顺式- eqtl信号（在其靶基因1 Mb内）数量众多，并且许多信号在区域和外显子之间具有异质性。与相同样本的标准共表达分析相比，共享eQTL信号的共调控分析产生了定义明确的区域特异性共调控基因模块。我们报告了23.1%的成人发病神经系统疾病全基因组关联研究命中的顺式- eqtl信号。该数据集可通过公共数据存储库和http://www.braineac.org/公开获取。我们的研究增加了我们对人类大脑中基因表达调控的理解，并将对其他追求疾病相关变异功能随访的人有价值。
Germ-line genetic control of gene expression occurs via expression quantitative trait loci (eQTLs). We present a large, exon-specific eQTL data set covering ten human brain regions. We found that cis-eQTL signals (within 1 Mb of their target gene) were numerous, and many acted heterogeneously among regions and exons. Co-regulation analysis of shared eQTL signals produced well-defined modules of region-specific co-regulated genes, in contrast to standard coexpression analysis of the same samples. We report cis-eQTL signals for 23.1% of catalogued genome-wide association study hits for adult-onset neurological disorders. The data set is publicly available via public data repositories and via http://www.braineac.org/. Our study increases our understanding of the regulation of gene expression in the human brain and will be of value to others pursuing functional follow-up of disease-associated variants.
登录
查看更多内容
影响因子：
30.8
作者：
McKay, James D.;Hung, Rayjean J.;Gaborieau, Valerie;Boffetta, Paolo;Chabrier, Amelie;Byrnes, Graham;Zaridze, David;Mukeria, Anush;Szeszenia-Dabrowska, Neonilia;Lissowska, Jolanta;Rudnai, Peter;Fabianova, Eleonora;Mates, Dana;Bencko, Vladimir;Foretova, Lenka;Janout, Vladimir;McLaughlin, John;Shepherd, Frances;Montpetit, Alexandre;Narod, Steven;Krokan, Hans E.;Skorpen, Frank;Elvestad, Maiken Bratt;Vatten, Lars;Njolstad, Inger;Axelsson, Tomas;Chen, Chu;Goodman, Gary;Barnett, Matt;Loomis, Melissa M.;Lubinski, Jan;Matyjasik, Joanna;Lener, Marcin;Oszutowska, Dorota;Field, John;Liloglou, Triantafillos;Xinarianos, George;Cassidy, Adrian;Zelenika, Diana;Boland, Anne;Delepine, Marc;Foglio, Mario;Lechner, Doris;Matsuda, Fumihiko;Blanche, Helene;Gut, Ivo;Heath, Simon;Lathrop, Mark;Brennan, Paul
通讯作者：
Brennan, Paul
剪接的组织特异性遗传控制：对复杂性状的研究的影响。
影响因子：
9.8
作者：
Heinzen EL;Ge D;Cronin KD;Maia JM;Shianna KV;Gabriel WN;Welsh-Bohmer KA;Hulette CM;Denny TN;Goldstein DB
通讯作者：
Goldstein DB
影响因子：
30.8
作者：
Fairfax, Benjamin P.;Makino, Seiko;Radhakrishnan, Jayachandran;Plant, Katharine;Leslie, Stephen;Dilthey, Alexander;Ellis, Peter;Langford, Cordelia;Vannberg, Fredrik O.;Knight, Julian C.
通讯作者：
Knight, Julian C.
DOI：
10.1056/nejmra0808700
发表时间：
2009-04-23
期刊：
The New England journal of medicine
影响因子：
--
作者：
Hardy J;Singleton A
通讯作者：
Singleton A
影响因子：
30.8
作者：
通讯作者：
--