Mapping complex disease traits with global gene expression

被引:593
作者
Cookson, William [1 ]
Liang, Liming [2 ]
Abecasis, Goncalo [2 ]
Moffatt, Miriam [1 ]
Lathrop, Mark [3 ]
机构
[1] Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, London SW3 6LY, England
[2] SPH II, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI 48109 USA
[3] CEA Ctr Natl Genotypage, F-91057 Evry, France
基金
英国惠康基金;
关键词
GENOME-WIDE ASSOCIATION; COPY NUMBER VARIATION; RHEUMATOID-ARTHRITIS; SUSCEPTIBILITY LOCI; ORMDL3; EXPRESSION; LINKAGE ANALYSIS; VARIANTS; NETWORKS; RISK; SEQUENCE;
D O I
10.1038/nrg2537
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Variation in gene expression is an important mechanism underlying susceptibility to complex disease. The simultaneous genome-wide assay of gene expression and genetic variation allows the mapping of the genetic factors that underpin individual differences in quantitative levels of expression (expression QTLs; eQTLs). The availability of systematically generated eQTL information could provide immediate insight into a biological basis for disease associations identified through genome-wide association (GWA) studies, and can help to identify networks of genes involved in disease pathogenesis. Although there are limitations to current eQTL maps, understanding of disease will be enhanced with novel technologies and international efforts that extend to a wide range of new samples and tissues.
引用
收藏
页码:184 / 194
页数:11
相关论文
共 110 条
[31]   The environmental contribution to gene expression profiles [J].
Gibson, Greg .
NATURE REVIEWS GENETICS, 2008, 9 (08) :575-581
[32]   Revealing the architecture of gene regulation: the promise of eQTL studies [J].
Gilad, Yoav ;
Rifkin, Scott A. ;
Pritchard, Jonathan K. .
TRENDS IN GENETICS, 2008, 24 (08) :408-415
[33]   Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes [J].
Goering, Harald H. H. ;
Curran, Joanne E. ;
Johnson, Matthew P. ;
Dyer, Thomas D. ;
Charlesworth, Jac ;
Cole, Shelley A. ;
Jowett, Jeremy B. M. ;
Abraham, Lawrence J. ;
Rainwater, David L. ;
Comuzzie, Anthony G. ;
Mahaney, Michael C. ;
Almasy, Laura ;
MacCluer, Jean W. ;
Kissebah, Ahmed H. ;
Collier, Gregory R. ;
Moses, Eric K. ;
Blangero, John .
NATURE GENETICS, 2007, 39 (10) :1208-1216
[34]   The human disease network [J].
Goh, Kwang-Il ;
Cusick, Michael E. ;
Valle, David ;
Childs, Barton ;
Vidal, Marc ;
Barabasi, Albert-Laszlo .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (21) :8685-8690
[35]   Regulatory hotspots in the malaria parasite genome dictate transcriptional variation [J].
Gonzales, Joseph M. ;
Patel, Jigar J. ;
Ponmee, Napawan ;
Jiang, Lei ;
Tan, Asako ;
Maher, Steven P. ;
Wuchty, Stefan ;
Rathod, Pradipsinh K. ;
Ferdig, Michael T. .
PLOS BIOLOGY, 2008, 6 (09) :2016-2027
[36]   The gene encoding phosphodiesterase 4D confers risk of ischemic stroke [J].
Gretarsdottir, S ;
Thorleifsson, G ;
Reynisdottir, ST ;
Manolescu, A ;
Jonsdottir, S ;
Jonsdottir, T ;
Gudmundsdottir, T ;
Bjarnadottir, SM ;
Einarsson, OB ;
Gudjonsdottir, HM ;
Hawkins, M ;
Gudmundsson, G ;
Gudmundsdottir, H ;
Andrason, H ;
Gudmundsdottir, AS ;
Sigurdardottir, M ;
Chou, TT ;
Nahmias, J ;
Goss, S ;
Sveinbjörnsdottir, S ;
Valdimarsson, EM ;
Jakobsson, F ;
Agnarsson, U ;
Gudnason, V ;
Thorgeirsson, G ;
Fingerle, J ;
Gurney, M ;
Gudbjartsson, D ;
Frigge, ML ;
Kong, A ;
Stefansson, K ;
Gulcher, JR .
NATURE GENETICS, 2003, 35 (02) :131-138
[37]   Molecular biology - The expanding world of small RNAs [J].
Grosshans, Helge ;
Filipowicz, Witold .
NATURE, 2008, 451 (7177) :414-416
[38]   Many sequence variants affecting diversity of adult human height [J].
Gudbjartsson, Daniel F. ;
Walters, G. Bragi ;
Thorleifsson, Gudmar ;
Stefansson, Hreinn ;
Halldorsson, Bjarni V. ;
Zusmanovich, Pasha ;
Sulem, Patrick ;
Thorlacius, Steinunn ;
Gylfason, Arnaldur ;
Steinberg, Stacy ;
Helgadottir, Anna ;
Ingason, Andres ;
Steinthorsdottir, Valgerdur ;
Olafsdottir, Elinborg J. ;
Olafsdottir, Gudridur H. ;
Jonsson, Thorvaldur ;
Borch-Johnsen, Knut ;
Hansen, Torben ;
Andersen, Gitte ;
Jorgensen, Torben ;
Pedersen, Oluf ;
Aben, Katja K. ;
Witjes, J. Alfred ;
Swinkels, Dorine W. ;
den Heijer, Martin ;
Franke, Barbara ;
Verbeek, Andre L. M. ;
Becker, Diane M. ;
Yanek, Lisa R. ;
Becker, Lewis C. ;
Tryggvadottir, Laufey ;
Rafnar, Thorunn ;
Gulcher, Jeffrey ;
Kiemeney, Lambertus A. ;
Kong, Augustine ;
Thorsteinsdottir, Unnur ;
Stefansson, Kari .
NATURE GENETICS, 2008, 40 (05) :609-615
[39]   A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study [J].
Hakonarson, Hakon ;
Qu, Hui-Qi ;
Bradfield, Jonathan P. ;
Marchand, Luc ;
Kim, Cecilia E. ;
Glessner, Joseph T. ;
Grabs, Rosemarie ;
Casalunovo, Tracy ;
Taback, Shayne P. ;
Frackelton, Edward C. ;
Eckert, Andrew W. ;
Annaiah, Kiran ;
Lawson, Margaret L. ;
Otieno, F. George ;
Santa, Erin ;
Shaner, Julie L. ;
Smith, Ryan M. ;
Onyiah, Chioma C. ;
Skraban, Robert ;
Chiavacci, Rosetta M. ;
Robinson, Luke J. ;
Stanley, Charles A. ;
Kirsch, Susan E. ;
Devoto, Marcella ;
Monos, Dimitri S. ;
Grant, Struan F. A. ;
Polychronakos, Constantin .
DIABETES, 2008, 57 (04) :1143-1146
[40]   An oncogene-induced DNA damage model for cancer development [J].
Halazonetis, Thanos D. ;
Gorgoulis, Vassilis G. ;
Bartek, Jiri .
SCIENCE, 2008, 319 (5868) :1352-1355