Incorporation of Biological Knowledge Into the Study of Gene-Environment Interactions

被引:23
作者
Ritchie, Marylyn D. [3 ,4 ]
Davis, Joe R. [1 ]
Aschard, Hugues [5 ,6 ]
Battle, Alexis [5 ,7 ]
Conti, David [8 ]
Du, Mengmeng [9 ]
Eskin, Eleazar [10 ,11 ]
Fallin, M. Daniele [12 ]
Hsu, Li [13 ]
Kraft, Peter [5 ]
Moore, Jason H. [14 ]
Pierce, Brandon L. [15 ,16 ,17 ]
Bien, Stephanie A. [18 ]
Thomas, Duncan C. [8 ]
Wei, Peng [19 ]
Montgomery, Stephen B. [1 ,2 ]
机构
[1] Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA
[2] Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA
[3] Penn State Univ, Ctr Syst Genom, Dept Biochem & Mol Biol, University Pk, PA 16802 USA
[4] Geisinger Hlth Syst, Biomed & Translat Informat, Danville, PA USA
[5] Harvard TH Sch Publ Hlth, Dept Epidemiol, Boston, MA USA
[6] Inst Pasteur, Ctr Bioinformat Biostat & Biol Integrat C3BI, Paris, France
[7] Johns Hopkins Univ, Dept Comp Sci, Baltimore, MD 21218 USA
[8] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA
[9] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10021 USA
[10] Univ Calif Los Angeles, Dept Comp Sci, Los Angeles, CA 90024 USA
[11] Univ Calif Los Angeles, Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA
[12] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD USA
[13] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Biostat & Biomath Program, 1124 Columbia St, Seattle, WA 98104 USA
[14] Univ Penn, Inst Biomed Informat, Perelman Sch Med, Dept Biostat & Epidemiol,Div Informat, Philadelphia, PA 19104 USA
[15] Univ Chicago Med & Biol Sci, Dept Publ Hlth Sci, Chicago, IL USA
[16] Univ Chicago Med & Biol Sci, Dept Human Genet, Chicago, IL USA
[17] Univ Chicago Med & Biol Sci, Ctr Comprehens Canc, Chicago, IL USA
[18] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA
[19] Univ Texas MD Anderson Canc Ctr, Dept Biostat, Houston, TX 77030 USA
基金
美国国家卫生研究院;
关键词
data integration; functional genomics; gene-environment interaction; model organisms; ALLELE-SPECIFIC EXPRESSION; PANCREATIC-CANCER; HERITABILITY; ARCHITECTURE; CHALLENGES; GENOTYPE; GENOMES; EQTLS; RISK; SEX;
D O I
10.1093/aje/kwx229
中图分类号
R1 [预防医学、卫生学];
学科分类号
1004 ; 120402 ;
摘要
A growing knowledge base of genetic and environmental information has greatly enabled the study of disease risk factors. However, the computational complexity and statistical burden of testing all variants by all environments has required novel study designs and hypothesis-driven approaches. We discuss how incorporating biological knowledge from model organisms, functional genomics, and integrative approaches can empower the discovery of novel gene-environment interactions and discuss specific methodological considerations with each approach. We consider specific examples where the application of these approaches has uncovered effects of gene-environment interactions relevant to drug response and immunity, and we highlight how such improvements enable a greater understanding of the pathogenesis of disease and the realization of precision medicine.
引用
收藏
页码:771 / 777
页数:7
相关论文
共 54 条
[1]   The effect of genotype and in utero environment on interindividual variation in neonate DNA methylomes [J].
Ai Ling Teh ;
Pan, Hong ;
Chen, Li ;
Ong, Mei-Lyn ;
Dogra, Shaillay ;
Wong, Johnny ;
MacIsaac, Julia L. ;
Mah, Sarah M. ;
McEwen, Lisa M. ;
Saw, Seang-Mei ;
Godfrey, Keith M. ;
Chong, Yap-Seng ;
Kwek, Kenneth ;
Kwoh, Chee-Keong ;
Soh, Shu-E. ;
Chong, Mary F. F. ;
Barton, Sheila ;
Karnani, Neerja ;
Cheong, Clara Y. ;
Buschdorf, Jan Paul ;
Stunkel, Walter ;
Kobor, Michael S. ;
Meaney, Michael J. ;
Gluckman, Peter D. ;
Holbrook, Joanna D. .
GENOME RESEARCH, 2014, 24 (07) :1064-1074
[2]   SLI-1 Cbl Inhibits the Engulfment of Apoptotic Cells in C. elegans through a Ligase-Independent Function [J].
Anderson, Courtney ;
Zhou, Shan ;
Sawin, Emma ;
Horvitz, H. Robert ;
Hurwitz, Michael E. .
PLOS GENETICS, 2012, 8 (12)
[3]  
[Anonymous], 2006, Genetics
[4]  
[Anonymous], GENETIC EFFECTS CHRO
[5]   The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans [J].
Ardlie, Kristin G. ;
DeLuca, David S. ;
Segre, Ayellet V. ;
Sullivan, Timothy J. ;
Young, Taylor R. ;
Gelfand, Ellen T. ;
Trowbridge, Casandra A. ;
Maller, Julian B. ;
Tukiainen, Taru ;
Lek, Monkol ;
Ward, Lucas D. ;
Kheradpour, Pouya ;
Iriarte, Benjamin ;
Meng, Yan ;
Palmer, Cameron D. ;
Esko, Tonu ;
Winckler, Wendy ;
Hirschhorn, Joel N. ;
Kellis, Manolis ;
MacArthur, Daniel G. ;
Getz, Gad ;
Shabalin, Andrey A. ;
Li, Gen ;
Zhou, Yi-Hui ;
Nobel, Andrew B. ;
Rusyn, Ivan ;
Wright, Fred A. ;
Lappalainen, Tuuli ;
Ferreira, Pedro G. ;
Ongen, Halit ;
Rivas, Manuel A. ;
Battle, Alexis ;
Mostafavi, Sara ;
Monlong, Jean ;
Sammeth, Michael ;
Mele, Marta ;
Reverter, Ferran ;
Goldmann, Jakob M. ;
Koller, Daphne ;
Guigo, Roderic ;
McCarthy, Mark I. ;
Dermitzakis, Emmanouil T. ;
Gamazon, Eric R. ;
Im, Hae Kyung ;
Konkashbaev, Anuar ;
Nicolae, Dan L. ;
Cox, Nancy J. ;
Flutre, Timothee ;
Wen, Xiaoquan ;
Stephens, Matthew .
SCIENCE, 2015, 348 (6235) :648-660
[6]   A perspective on interaction effects in genetic association studies [J].
Aschard, Hugues .
GENETIC EPIDEMIOLOGY, 2016, 40 (08) :678-688
[7]   Deciphering the genetic architecture of variation in the immune response to Mycobacterium tuberculosis infection [J].
Barreiro, Luis B. ;
Tailleux, Ludovic ;
Pai, Athma A. ;
Gicquel, Brigitte ;
Marioni, John C. ;
Gilad, Yoav .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2012, 109 (04) :1204-1209
[8]   Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes [J].
Biankin, Andrew V. ;
Waddell, Nicola ;
Kassahn, Karin S. ;
Gingras, Marie-Claude ;
Muthuswamy, Lakshmi B. ;
Johns, Amber L. ;
Miller, David K. ;
Wilson, Peter J. ;
Patch, Ann-Marie ;
Wu, Jianmin ;
Chang, David K. ;
Cowley, Mark J. ;
Gardiner, Brooke B. ;
Song, Sarah ;
Harliwong, Ivon ;
Idrisoglu, Senel ;
Nourse, Craig ;
Nourbakhsh, Ehsan ;
Manning, Suzanne ;
Wani, Shivangi ;
Gongora, Milena ;
Pajic, Marina ;
Scarlett, Christopher J. ;
Gill, Anthony J. ;
Pinho, Andreia V. ;
Rooman, Ilse ;
Anderson, Matthew ;
Holmes, Oliver ;
Leonard, Conrad ;
Taylor, Darrin ;
Wood, Scott ;
Xu, Qinying ;
Nones, Katia ;
Fink, J. Lynn ;
Christ, Angelika ;
Bruxner, Tim ;
Cloonan, Nicole ;
Kolle, Gabriel ;
Newell, Felicity ;
Pinese, Mark ;
Mead, R. Scott ;
Humphris, Jeremy L. ;
Kaplan, Warren ;
Jones, Marc D. ;
Colvin, Emily K. ;
Nagrial, Adnan M. ;
Humphrey, Emily S. ;
Chou, Angela ;
Chin, Venessa T. ;
Chantrill, Lorraine A. .
NATURE, 2012, 491 (7424) :399-405
[9]   Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins [J].
Buil, Alfonso ;
Brown, Andrew Anand ;
Lappalainen, Tuuli ;
Vinuela, Ana ;
Davies, Matthew N. ;
Zheng, Hou-Feng ;
Richards, J. Brent ;
Glass, Daniel ;
Small, Kerrin S. ;
Durbin, Richard ;
Spector, Timothy D. ;
Dermitzakis, Emmanouil T. .
NATURE GENETICS, 2015, 47 (01) :88-+
[10]  
Bush WS, 2009, PACIFIC SYMPOSIUM ON BIOCOMPUTING 2009, P368