Cited by 849Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestock

The DOI matches its Crossref record; 113 of the 115 references it cites were found in a registry or an index.

Mapping complex disease traits with global gene expression

Open access

Cookson, William, Liang, Liming, Abecasis, Gonçalo, Moffatt, Miriam, Lathrop, Mark·2009·Nature Reviews Genetics

DOI 10.1038/nrg2537PMC PMC4550035

Open this paper in CoChat — free account

Abstract

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1038/nrg2537

Cites

113 of 113 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
Faith, M. S., Carnell, S., & Kral, T. V. E. (2013) · Human Heredity · doi:10.1159/000353879 · Cited by 7,633
A General Framework for Weighted Gene Co-Expression Network Analysis
Zhang, B., & Horvath, S. (2005) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1128 · Cited by 5,684
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
Hugot, J.-P., Chamaillard, M., Zouali, H., Lesage, S., Cézard, J.-P., Belaiche, J., Almer, S., Tysk, C., O'Morain, C. A., Gassull, M., et al. (2001) · Nature · doi:10.1038/35079107 · Cited by 5,591
The Connectivity Map: Using Gene-Expression Signatures to Connect Small Molecules, Genes, and Disease
Lamb, J., Crawford, E. D., Peck, D., Modell, J. W., Blat, I. C., Wrobel, M. J., Lerner, J., Brunet, J.-P., Subramanian, A., Ross, K. N., et al. (2006) · Science · doi:10.1126/science.1132939 · Cited by 5,257
The human disease network
Goh, K.-I., Cusick, M. E., Valle, D., Childs, B., Vidal, M., & Barabási, A.-L. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701361104 · Cited by 3,242
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
Palmer, C. N. A., Irvine, A. D., Terron-Kwiatkowski, A., Zhao, Y., Liao, H., Lee, S. P., Goudie, D. R., Sandilands, A., Campbell, L. E., Smith, F. J. D., et al. (2006) · Nature Genetics · doi:10.1038/ng1767 · Cited by 2,978
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
the NIDDK IBD Genetics Consortium, Barrett, J. C., the Belgian-French IBD Consortium, the Wellcome Trust Case Control Consortium, Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., Brant, S. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.175 · Cited by 2,593
Self-citation
Heritability in the genomics era — concepts and misconceptions
Visscher, P. M., Hill, W. G., & Wray, N. R. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2322 · Cited by 1,921
An Oncogene-Induced DNA Damage Model for Cancer Development
Halazonetis, T. D., Gorgoulis, V. G., & Bartek, J. (2008) · Science · doi:10.1126/science.1140735 · Cited by 1,851

Flagged first, then by citations

Show all 115 references

2 of the 115 references couldn’t be matched to a known paper.

Research works printed but not linked: 1

Thein, S. L. et al. Intergenic variants of HBS1L–MYB are responsible for a major QTL on chromosome 6q23 influencing HbF levels in adults. Proc. Natl Acad. Sci. USA (in the press).

Sorted by citations

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics
Giambartolomei, C., Vukcevic, D., Schadt, E. E., Franke, L., Hingorani, A. D., Wallace, C., & Plagnol, V. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004383 · Cited by 4,261
Systematic Localization of Common Disease-Associated Variation in Regulatory DNA
Maurano, M. T., Humbert, R., Rynes, E., Thurman, R. E., Haugen, E., Wang, H., Reynolds, A. P., Sandstrom, R., Qu, H., Brody, J., et al. (2012) · Science · doi:10.1126/science.1222794 · Cited by 3,716
Five Years of GWAS Discovery
Visscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.029 · Cited by 2,425
A Large-Scale, Consortium-Based Genomewide Association Study of Asthma
Moffatt, M. F., Gut, I. G., Démenais, F., Strachan, D. P., Bouzigon, E., Heath, S. C., von Mutius, E., Farrall, M., Lathrop, M. G., & Cookson, W. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0906312 · Cited by 2,043
Self-citation
A gene-based association method for mapping traits using reference transcriptome data
Gamazon, E. R., Wheeler, H. E., Shah, K. P., Mozaffari, S. V., Aquino-Michaels, K., Carroll, R. J., Eyler, A. E., Denny, J. C., Nicolae, D. L., Cox, N. J., et al. (2015) · Nature Genetics · doi:10.1038/ng.3367 · Cited by 1,790
Genome-wide association analysis identifies 13 new risk loci for schizophrenia
Multicenter Genetic Studies of Schizophrenia Consortium, Ripke, S., Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium 2, O'Dushlaine, C., Chambert, K., Moran, J. L., Kähler, A. K., Akterin, S., Bergen, S. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2742 · Cited by 1,496
The genetics of quantitative traits: challenges and prospects
Mackay, T. F. C., Stone, E. A., & Ayroles, J. F. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2612 · Cited by 1,352
Rare and common variants: twenty arguments
Gibson, G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3118 · Cited by 1,278
Human genetic variation and its contribution to complex traits
Frazer, K. A., Murray, S. S., Schork, N. J., & Topol, E. J. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2554 · Cited by 1,073
The role of regulatory variation in complex traits and disease
Albert, F. W., & Kruglyak, L. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3891 · Cited by 1,047
Genomics and the origin of species
D, O. S. C., Butlin, R. K., Keller, I., Wagner, C. E., BOUGHMAN, J. W., Hohenlohe, P. A., Peichel, C. L., Sætre, G., Bank, C., Brännström, Å., et al. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3644 · Cited by 1,045
Single-cell RNA-seq: advances and future challenges
Saliba, A.-E., Westermann, A. J., Gorski, S. A., & Vogel, J. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku555 · Cited by 847
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain
Gibbs, J. R., van der Brug, M. P., Hernandez, D. G., Traynor, B. J., Nalls, M. A., Lai, S.-L., Arepalli, S., Dillman, A., Rafferty, I. P., Troncoso, J., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000952 · Cited by 769
Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression
Fairfax, B. P., Humburg, P., Makino, S., Naranbhai, V., Wong, D., Lau, E., Jostins, L., Plant, K., Andrews, R., McGee, C., et al. (2014) · Science · doi:10.1126/science.1246949 · Cited by 764
Genomic views of distant-acting enhancers
Visel, A., Rubin, E. M., & Pennacchio, L. A. (2009) · Nature · doi:10.1038/nature08451 · Cited by 610
Chromosome conformation elucidates regulatory relationships in developing human brain
Won, H., de la Torre-Ubieta, L., Stein, J. L., Parikshak, N. N., Huang, J., Opland, C. K., Gandal, M. J., Sutton, G. J., Hormozdiari, F., Lu, D., et al. (2016) · Nature · doi:10.1038/nature19847 · Cited by 584
Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility
Zeller, T., Wild, P. S., Szymczak, S., Rotival, M., Schillert, A., Castagné, R., Maouche, S., Germain, M., Lackner, K. J., Rossmann, H., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010693 · Cited by 595
Advantages and limitations of current network inference methods
Smet, R. D., & Marchal, K. (2010) · Nature Reviews Microbiology · doi:10.1038/nrmicro2419 · Cited by 530
Expression quantitative trait loci: present and future
Nica, A. C., & Dermitzakis, E. T. (2013) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2012.0362 · Cited by 529
Gender Differences in Cancer Susceptibility: An Inadequately Addressed Issue
Dorak, M. T., & Karpuzoglu, E. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2012.00268 · Cited by 505
Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles
Fairfax, B. P., Makino, S., Radhakrishnan, J., Plant, K., Leslie, S., Dilthey, A., Ellis, P., Langford, C., Vannberg, F. O., & Knight, J. C. (2012) · Nature Genetics · doi:10.1038/ng.2205 · Cited by 486
Integrative Analysis of Multi-omics Data for Discovery and Functional Studies of Complex Human Diseases
Sun, Y. V., & Hu, Y.-J. (2016) · Advances in Genetics · doi:10.1016/bs.adgen.2015.11.004 · Cited by 459
Principles for the post-GWAS functional characterization of cancer risk loci
Freedman, M. L., Monteiro, Á. N. A., Gayther, S. A., Coetzee, G. A., Risch, A., Plass, C., Casey, G., Biasi, M. D., Carlson, C., Duggan, D. J., et al. (2011) · Nature Genetics · doi:10.1038/ng.840 · Cited by 442
The genetic contribution to non-syndromic human obesity
Walley, A. J., Asher, J. E., & Froguel, P. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2594 · Cited by 412
Heritability and genomics of gene expression in peripheral blood
Wright, F. A., Sullivan, P. F., Brooks, A. I., Zou, F., Sun, W., Xia, K., Madar, V., Jansen, R., Chung, W., Zhou, Y.-H., et al. (2014) · Nature Genetics · doi:10.1038/ng.2951 · Cited by 362
Unveiling the role of network and systems biology in drug discovery
Pujol, A., Mosca, R., Farrés, J., & Aloy, P. (2010) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2009.11.006 · Cited by 348
The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers
Amos, C. I., Dennis, J., Wang, Z., Byun, J., Schumacher, F. R., Gayther, S. A., Casey, G., Hunter, D. J., Sellers, T. A., Gruber, S. B., et al. (2016) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-16-0106 · Cited by 342
Integrative eQTL-Based Analyses Reveal the Biology of Breast Cancer Risk Loci
Li, Q., Seo, J.-H., Stranger, B. E., McKenna, A., Pe’er, I., LaFramboise, T., Brown, M. A., Tyekucheva, S., & Freedman, M. L. (2013) · Cell · doi:10.1016/j.cell.2012.12.034 · Cited by 313
Systems biology in cardiovascular disease: a multiomics approach
Joshi, A., Rienks, M., Theofilatos, K., & Mayr, M. (2020) · Nature Reviews Cardiology · doi:10.1038/s41569-020-00477-1 · Cited by 309
Genome-wide allele-specific analysis: insights into regulatory variation
Pastinen, T. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2815 · Cited by 291
Genetics and Pathogenesis of Inflammatory Bowel Disease
Liu, T.-C., & Stappenbeck, T. S. (2016) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-012615-044152 · Cited by 289
Unravelling the human genome–phenome relationship using phenome-wide association studies
Bush, W. S., Oetjens, M. T., & Crawford, D. C. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.36 · Cited by 269
RNA-Seq and human complex diseases: recent accomplishments and future perspectives
Costa, V., Aprile, M., Esposito, R., & Ciccodicola, A. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.129 · Cited by 277
Effects of environmental factors on cereal starch biosynthesis and composition
Thitisaksakul, M., Jiménez, R. C., Arias, M. C., & Beckles, D. M. (2012) · Journal of Cereal Science · doi:10.1016/j.jcs.2012.04.002 · Cited by 269
A Statistical Framework for Joint eQTL Analysis in Multiple Tissues
Flutre, T., Wen, X., Pritchard, J. K., & Stephens, M. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003486 · Cited by 259
Sherlock: Detecting Gene-Disease Associations by Matching Patterns of Expression QTL and GWAS
He, X., Fuller, C. K., Song, Y., Meng, Q., Zhang, B., Yang, X., & Li, H. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.03.022 · Cited by 241
Genetics of human gene expression: mapping DNA variants that influence gene expression
Cheung, V. G., & Spielman, R. S. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2630 · Cited by 241
Genetic variation in the non-coding genome: Involvement of micro-RNAs and long non-coding RNAs in disease
Hrdličková, B., de Almeida, R. C., Borek, Z., & Withoff, S. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.03.011 · Cited by 239
Genotype to phenotype: lessons from model organisms for human genetics
Lehner, B. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3404 · Cited by 240
Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects
van Eijk, K. R., de Jong, S., Boks, M. P., Langeveld, T., Colas, F., Veldink, J. H., de Kovel, C. G. F., Janson, E., Strengman, E., Langfelder, P., et al. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-636 · Cited by 230
Genetic causes of high and low serum HDL-cholesterol
Weissglas‐Volkov, D., & Pajukanta, P. (2010) · Journal of Lipid Research · doi:10.1194/jlr.r004739 · Cited by 222
Unraveling the Regulatory Mechanisms Underlying Tissue-Dependent Genetic Variation of Gene Expression
Fu, J., Wolfs, M. G. M., Deelen, P., Westra, H.-J., Fehrmann, R. S. N., Meerman, G. J. T., Buurman, W. A., Rensen, S. S., Groen, H. J. M., Weersma, R. K., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002431 · Cited by 218
Genome-wide association and high-resolution phenotyping link Oryza sativa panicle traits to numerous trait-specific QTL clusters
Crowell, S. V., Korniliev, P., Falcão, A. X., Ismail, A. M., Gregorio, G. B., Mezey, J. G., & McCouch, S. R. (2016) · Nature Communications · doi:10.1038/ncomms10527 · Cited by 219
An Integration of Genome-Wide Association Study and Gene Expression Profiling to Prioritize the Discovery of Novel Susceptibility Loci for Osteoporosis-Related Traits
Hsu, Y., Zillikens, M. C., Wilson, S. G., Farber, C. R., Demissie, S., Soranzo, N., Bianchi, E. N., Grundberg, E., Liang, L., Richards, J. B., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000977 · Cited by 210
Self-citation
Systems Biology in Immunology: A Computational Modeling Perspective
Germain, R. N., Meier‐Schellersheim, M., Nita‐Lazar, A., & Fraser, I. D. C. (2011) · Annual Review of Immunology · doi:10.1146/annurev-immunol-030409-101317 · Cited by 208
Single-Tissue and Cross-Tissue Heritability of Gene Expression Via Identity-by-Descent in Related or Unrelated Individuals
Price, A. L., Helgason, A., Þorleifsson, G., McCarroll, S. A., Kong, A., & Stefánsson, K. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001317 · Cited by 198
Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing
Gutiérrez‐Arcelus, M., Ongen, H., Lappalainen, T., Montgomery, S. B., Buil, A., Yurovsky, A., Bryois, J., Padioleau, I., Romano, L., Planchon, A., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1004958 · Cited by 198
Gene expression imputation across multiple brain regions provides insights into schizophrenia risk
Huckins, L. M., Murray, R. M., Dobbyn, A. L., Ruderfer, D. M., Hoffman, G. E., Wang, W., Pardiñas, A. F., Rajagopal, V. M., Als, T. D., Nguyen, H. T., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0364-4 · Cited by 200
HTR7 Mediates Serotonergic Acute and Chronic Itch
Morita, T., McClain, S. P., Batia, L. M., Pellegrino, M., Wilson, S. R., Kienzler, M. A., Lyman, K. A., Olsen, A. S. B., Wong, J. F., Stucky, C. L., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.05.044 · Cited by 188
Genetics of schizophrenia: new findings and challenges
Gejman, P. V., Sanders, A. R., & Kendler, K. S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082410-101459 · Cited by 183
Genetic variants and normal tissue toxicity after radiotherapy: A systematic review
Andreassen, C. N., & Alsner, J. (2009) · Radiotherapy and Oncology · doi:10.1016/j.radonc.2009.06.015 · Cited by 183
The pursuit of genome-wide association studies: where are we now?
Ku, C., Loy, E. Y., Yudi Pawitan, Y., & Chia, K. S. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.19 · Cited by 184
Gene expression in skin and lymphoblastoid cells: refined statistical method reveals extensive overlap in cis-eQTL signals
Ding, J., Gudjonsson, J. E., Liang, L., Stuart, P. E., Li, Y., Chen, W., Weichenthal, M., Ellinghaus, E., Franke, A., Cookson, W., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.024 · Cited by 180
Self-citation
Genetics of complex traits: prediction of phenotype, identification of causal polymorphisms and genetic architecture
Goddard, M. E., Kemper, K. E., MacLeod, I. M., Chamberlain, A. J., & Hayes, B. J. (2016) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2016.0569 · Cited by 193
Informatics and Computational Methods in Natural Product Drug Discovery: A Review and Perspectives
Romano, J. D., & Tatonetti, N. P. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00368 · Cited by 183
Integrative Modeling of eQTLs and Cis-Regulatory Elements Suggests Mechanisms Underlying Cell Type Specificity of eQTLs
Brown, C. D., Mangravite, L. M., & Engelhardt, B. E. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003649 · Cited by 183
A framework for understanding gene expression plasticity and its influence on stress tolerance
Rivera, H. E., Aichelman, H. E., Fifer, J. E., Kriefall, N. G., Wuitchik, D. M., Smith, S. J., & Davies, S. W. (2021) · Molecular Ecology · doi:10.1111/mec.15820 · Cited by 177
From genome to function by studying eQTLs
Westra, H.-J., & Franke, L. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.04.024 · Cited by 174
Association weight matrix for the genetic dissection of puberty in beef cattle
Fortes, M. R. S., Reverter, A., Zhang, Y., Collis, E., Nagaraj, S. H., Jonsson, N. N., Prayaga, K. C., Barris, W., & Hawken, R. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1002044107 · Cited by 169
Gene Networks and microRNAs Implicated in Aggressive Prostate Cancer
Wang, L., Tang, H., Thayanithy, V., Subramanian, S., Oberg, A. L., Cunningham, J. M., Cerhan, J. R., Steer, C. J., & Thibodeau, S. N. (2009) · Cancer Research · doi:10.1158/0008-5472.can-09-2183 · Cited by 163
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population
Saad, M., Lesage, S., Saint-Pierre, A., Corvol, J., Zélénika, D., Lambert, J., Vidailhet, M., Mellick, G. D., Lohmann, E., Durif, F., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq497 · Cited by 162
Self-citation
The Genetic and Mechanistic Basis for Variation in Gene Regulation
Pai, A. A., Pritchard, J. K., & Gilad, Y. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1004857 · Cited by 167
A Genome-Wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease
Wild, P. S., Zeller, T., Schillert, A., Szymczak, S., Sinning, C., Deiseroth, A., Schnabel, R. B., Lubos, E., Keller, T., Eleftheriadis, M. S., et al. (2011) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.110.958728 · Cited by 156
Geographical genomics of human leukocyte gene expression variation in southern Morocco
Idaghdour, Y., Czika, W., Shianna, K. V., Lee, S. H., Visscher, P. M., Martin, H. C., Miclaus, K., Jadallah, S. J., Goldstein, D. B., Wolfinger, R. D., et al. (2010) · Nature Genetics · doi:10.1038/ng.495 · Cited by 151
A linear mixed-model approach to study multivariate gene–environment interactions
Moore, R., Casale, F. P., Bonder, M. J., Horta, D., Franke, L., Barroso, I., & Stegle, O. (2018) · Nature Genetics · doi:10.1038/s41588-018-0271-0 · Cited by 154
A Genomic Approach to Human Autoimmune Diseases
Pascual, V., Chaussabel, D., & Banchereau, J. (2010) · Annual Review of Immunology · doi:10.1146/annurev-immunol-030409-101221 · Cited by 152
Recent Genetics and Epigenetics Approaches to PTSD
Daskalakis, N. P., Rijal, C. M., King, C. D., Huckins, L. M., & Ressler, K. J. (2018) · Current Psychiatry Reports · doi:10.1007/s11920-018-0898-7 · Cited by 152
A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell linesPreprint
Liang, L., Morar, N., Dixon, A. L., Lathrop, M. G., Abecasis, G. R., Moffatt, M. F., & Cookson, W. (2013) · Genome Research · doi:10.1101/gr.142521.112 · Cited by 151
Self-citation
Exploring the genetic basis of human population differences in DNA methylation and their causal impact on immune gene regulation
Husquin, L. T., Rotival, M., Fagny, M., Quach, H., Zidane, N., McEwen, L. M., MacIsaac, J. L., Kobor, M. S., Aschard, H., Patin, É., et al. (2018) · Genome biology · doi:10.1186/s13059-018-1601-3 · Cited by 149
Combined GWAS and eQTL analysis uncovers a genetic regulatory network orchestrating the initiation of secondary cell wall development in cotton
Li, Z., Wang, P., You, C., Yu, J., Zhang, X., Yan, F., Ye, Z., Shen, C., Li, B., Guo, K., et al. (2020) · New Phytologist · doi:10.1111/nph.16468 · Cited by 143
Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS
Dobbyn, A. L., Huckins, L. M., Boocock, J., Sloofman, L. G., Glicksberg, B. S., Giambartolomei, C., Hoffman, G. E., Perumal, T. M., Girdhar, K., Jiang, Y., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.04.011 · Cited by 144
Genome-Wide Significant Loci: How Important Are They?
Björkegren, J., Kovacic, J. C., Dudley, J. T., & Schadt, E. E. (2015) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2014.12.033 · Cited by 147
The importance of p53 pathway genetics in inherited and somatic cancer genomes
Stracquadanio, G., Wang, X., Wallace, M. D., Grawenda, A. M., Zhang, P., Hewitt, J., Zerón-Medina-Cuairán, J., Castro-Giner, F., Tomlinson, I. P. M., Goding, C. R., et al. (2016) · Nature reviews. Cancer · doi:10.1038/nrc.2016.15 · Cited by 143
Correction for hidden confounders in the genetic analysis of gene expression
Listgarten, J., Kadie, C. M., Schadt, E. E., & Heckerman, D. E. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1002425107 · Cited by 145
Biomarkers to Predict Antidepressant Response
Leuchter, A. F., Cook, I. A., Hamilton, S. P., Narr, K. L., Toga, A. W., Hunter, A. M., Faull, K. F., Whitelegge, J. P., Andrews, A. M., Loo, J., et al. (2010) · Current Psychiatry Reports · doi:10.1007/s11920-010-0160-4 · Cited by 146
Integrating Genome-Wide Genetic Variations and Monocyte Expression Data Reveals Trans-Regulated Gene Modules in Humans
Rotival, M., Zeller, T., Wild, P. S., Maouche, S., Szymczak, S., Schillert, A., Castagné, R., Deiseroth, A., Proust, C., Brocheton, J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002367 · Cited by 140
Metastasis Suppressor Genes
Hurst, D. R., & Welch, D. R. (2011) · International review of cytology · doi:10.1016/b978-0-12-385859-7.00003-3 · Cited by 140
A Genome-Wide Metabolic QTL Analysis in Europeans Implicates Two Loci Shaped by Recent Positive Selection
Nicholson, G., Rantalainen, M., Li, J. V., Maher, A. D., Malmodin, D., Ahmadi, K. R., Faber, J. H., Barrett, A., Min, J. L., Rayner, N. W., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002270 · Cited by 137
Genome-wide Association Studies: Findings at the Major Histocompatibility Complex Locus in Psychosis
Corvin, A. P., & Morris, D. W. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.09.018 · Cited by 136
MicroRNA-3148 Modulates Allelic Expression of Toll-Like Receptor 7 Variant Associated with Systemic Lupus Erythematosus
Deng, Y., Zhao, J. H., Sakurai, D., Kaufman, K. M., Edberg, J. C., Kimberly, R. P., Kamen, D. L., Gilkeson, G. S., Jacob, C. O., Scofield, R. H., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003336 · Cited by 133
Detection and interpretation of expression quantitative trait loci (eQTL)
Michaelson, J. J., Loguercio, S., & Beyer, A. (2009) · Methods · doi:10.1016/j.ymeth.2009.03.004 · Cited by 140
Genome-Wide Variation of Cytosine Modifications Between European and African Populations and the Implications for Complex Traits
Moen, E. L., Zhang, X., Mu, W., Delaney, S. M., Wing, C., McQuade, J. L., Myers, J. L., Godley, L. A., Dolan, M. E., & Zhang, W. (2013) · Genetics · doi:10.1534/genetics.113.151381 · Cited by 134
Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity
Raj, P., Rai, E., Song, R., Khan, S., Wakeland, B., Viswanathan, K., Arana, C., Liang, C., Zhang, B., Dozmorov, I. M., et al. (2016) · eLife · doi:10.7554/elife.12089 · Cited by 133
Common genetic variation in Neuregulin 3 ( NRG3 ) influences risk for schizophrenia and impacts NRG3 expression in human brain
Kao, W.-T., Wang, Y., Kleinman, J. E., Lipska, B. K., Hyde, T. M., Weinberger, D. R., & Law, A. J. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1005410107 · Cited by 137
Chromosome 8q24-Associated Cancers and MYC
Grisanzio, C., & Freedman, M. L. (2010) · Genes & Cancer · doi:10.1177/1947601910381380 · Cited by 130
The major histocompatibility complex: a model for understanding graft-versus-host disease
Petersdorf, E. W. (2013) · Blood · doi:10.1182/blood-2013-05-355982 · Cited by 130
Integrative genomic analysis of the human immune response to influenza vaccination
Franco, L. M., Bucasas, K. L., Wells, J. M., Niño, D., Wang, X., Zapata, G. E., Arden, N. H., Renwick, A., Yu, P., Quarles, J. M., et al. (2013) · eLife · doi:10.7554/elife.00299 · Cited by 134
Schizophrenia susceptibility alleles are enriched for alleles that affect gene expression in adult human brain
Richards, A. L., Jones, L., Moskvina, V, Kirov, G., Gejman, P. V., Levinson, D. F., Sanders, A. R., Molecular Genetics of Schizophrenia Collaboration (MGS), International Schizophrenia Consortium (ISC), Purcell, S., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.11 · Cited by 123
Genomic Prediction for Quantitative Traits Is Improved by Mapping Variants to Gene Ontology Categories in Drosophila melanogaster
Edwards, S. M., Sørensen, I. F., Sarup, P. M., Mackay, T. F. C., & Sørensen, P. B. (2016) · Genetics · doi:10.1534/genetics.116.187161 · Cited by 126
Large-Scale East-Asian eQTL Mapping Reveals Novel Candidate Genes for LD Mapping and the Genomic Landscape of Transcriptional Effects of Sequence Variants
Narahara, M., Higasa, K., Nakamura, S., Tabara, Y., Kawaguchi, T., Ishii, M., Matsubara, K., Matsuda, F., & Yamada, R. (2014) · PLoS ONE · doi:10.1371/journal.pone.0100924 · Cited by 122
The human Major Histocompatibility Complex as a paradigm in genomics research
Vandiedonck, C., & Knight, J. C. (2009) · Briefings in Functional Genomics and Proteomics · doi:10.1093/bfgp/elp010 · Cited by 125
A Statistical Framework for eQTL Mapping Using RNA‐seq Data
Sun, W. (2011) · Biometrics · doi:10.1111/j.1541-0420.2011.01654.x · Cited by 121
A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese
Okada, Y., Shimane, K., Kochi, Y., Tahira, T., Suzuki, A., Higasa, K., Takahashi, A., Horita, T., Atsumi, T., Ishii, T., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002455 · Cited by 119
Redefining the IBDs using genome-scale molecular phenotyping
Furey, T. S., Sethupathy, P., & Sheikh, S. Z. (2019) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-019-0118-x · Cited by 120
Stroke sensitivity in the aged: sex chromosome complement vs. gonadal hormones
McCullough, L. D., Mirza, M. A., Xu, Y., Bentivegna, K., Steffens, E. B., Ritzel, R. M., & Liu, F. (2016) · Aging · doi:10.18632/aging.100997 · Cited by 114
Cis-regulatory mutations in human disease
Epstein, D. J. (2009) · Briefings in Functional Genomics and Proteomics · doi:10.1093/bfgp/elp021 · Cited by 117
A variational Bayes algorithm for fast and accurate multiple locus genome-wide association analysis
Logsdon, B. A., Hoffman, G. E., & Mezey, J. G. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-58 · Cited by 115
Global Rebalancing of Cellular Resources by Pleiotropic Point Mutations Illustrates a Multi-scale Mechanism of Adaptive Evolution
Utrilla, J., O’Brien, E. J., Chen, K., McCloskey, D., Cheung, J., Wang, H. H., Armenta‐Medina, D., Feist, A. M., & Palsson, B. Ø. (2016) · Cell Systems · doi:10.1016/j.cels.2016.04.003 · Cited by 114
scPower accelerates and optimizes the design of multi-sample single cell transcriptomic studies
Schmid, K. T., Höllbacher, B., Cruceanu, C., Böttcher, A., Lickert, H., Binder, E. B., Theis, F. J., & Heinig, M. (2021) · Nature Communications · doi:10.1038/s41467-021-26779-7 · Cited by 108
ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci
Stacey, D., Fauman, E. B., Ziemek, D., Sun, B. B., Harshfield, E. L., Wood, A., Butterworth, A. S., Suhre, K., & Paul, D. S. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky837 · Cited by 109

Authors: Cookson, W., Liang, L., Abecasis, G., Moffatt, M., & Lathrop, M.
Affiliations: Imperial College London (GB)
University of Michigan (US)
Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
Corresponding author: Cookson, William
Liang, Liming
Abecasis, Gonçalo
Moffatt, Miriam
Lathrop, Mark
ORCID: Cookson, William
Liang, Liming
Abecasis, Gonçalo
Moffatt, Miriam
Lathrop, Mark
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2009-03
Volume: 10
Issue: 3
Pages: 184-194
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg2537
PMC: PMC4550035
OpenAlex: W2142260323
Cited by: 849
References: 115
Citations by year: 2026: 8 · 2025: 15 · 2024: 30 · 2023: 27 · 2022: 29 · 2021: 41 · 2020: 37 · 2019: 47 · 2018: 36 · 2017: 40 · 2016: 52 · 2015: 62 · 2014: 59 · 2013: 79 · 2012: 102
FWCI: 8.99
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: Wellcome Trust
National Heart, Lung, and Blood Institute (U01HL084729)
National Human Genome Research Institute (R01HG002651)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Keywords: expression quantitative trait loci, eQTL mapping, gene expression variation, complex disease susceptibility, disease risk loci, genome-wide association study, mRNA levels, gene regulatory networks, pathogenesis, tissue-specific gene expression
MeSH terms: Animals, Disease, Humans, Genetic Variation, Quantitative Trait Loci, Genome-Wide Association Study

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Mapping complex disease traits with global gene expression

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks