Jump to ContentJump to Main Navigation
Show Summary Details
More options …

Drug Metabolism and Personalized Therapy

Official journal of the European Society of Pharmacogenomics and Personalised Therapy

Editor-in-Chief: Llerena, Adrián

Editorial Board: Benjeddou, Mongi / Chen, Bing / Dahl, Marja-Liisa / Devinsky, Ferdinand / Hirata, Rosario / Hubacek, Jaroslav A. / Ingelman-Sundberg, Magnus / Maitland-van der Zee, Anke-Hilse / Manolopoulos, Vangelis G. / Marc, Janja / Melichar, Bohuslav / Meyer, Urs A. / Nair, Sujit / Nofziger, Charity / Peiro, Ana / Sadee, Wolfgang / Salazar, Luis A. / Simmaco, Maurizio / Turpeinen, Miia / Schaik, Ron / Shin, Jae-Gook / Visvikis-Siest, Sophie / Zanger, Ulrich M.


CiteScore 2018: 1.01

SCImago Journal Rank (SJR) 2018: 0.277
Source Normalized Impact per Paper (SNIP) 2018: 0.446

Online
ISSN
2363-8915
See all formats and pricing
More options …
Volume 31, Issue 1

Issues

Human genetics: international projects and personalized medicine

Maria Apellaniz-Ruiz
  • Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Cristina Gallego
  • Stroke pharmacogenomics and genetics, Fundació Docència i Recerca Mutua Terrassa, Hospital Universitari Mútua de Terrassa, Terrassa (Barcelona), Spain
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Sara Ruiz-Pinto / Angel Carracedo
  • Fundación Pública de Medicina Xenómica-SERGAS. Grupo de Medicina Xenómica, CIBERER, IDIS, Santiago de Compostela, Spain
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Cristina Rodríguez-Antona
  • Corresponding author
  • Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
  • ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2015-11-18 | DOI: https://doi.org/10.1515/dmpt-2015-0032

Abstract

In this article, we present the progress driven by the recent technological advances and new revolutionary massive sequencing technologies in the field of human genetics. We discuss this knowledge in relation with drug response prediction, from the germline genetic variation compiled in the 1000 Genomes Project or in the Genotype-Tissue Expression project, to the phenome-genome archives, the international cancer projects, such as The Cancer Genome Atlas or the International Cancer Genome Consortium, and the epigenetic variation and its influence in gene expression, including the regulation of drug metabolism. This review is based on the lectures presented by the speakers of the Symposium “Human Genetics: International Projects & New Technologies” from the VII Conference of the Spanish Pharmacogenetics and Pharmacogenomics Society, held on the 20th and 21st of April 2015.

Keywords: epigenetics; genetic variation; human genome; pharmacogenomics

References

  • 1.

    Jorde LB, Wooding SP. Genetic variation, classification and “race.” Nat Genet 2004;36 S28–33.CrossrefGoogle Scholar

  • 2.

    Ma Q, Lu AY. Pharmacogenetics, pharmacogenomics and individualized medicine. Pharmacol Rev 2011;63:437–59.Web of ScienceGoogle Scholar

  • 3.

    William EE, McLeod HL. Pharmacogenomics – drug disposition, drug targets, and side effects. New Engl J Med 2003;348:538–49.Google Scholar

  • 4.

    Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860–921.Google Scholar

  • 5.

    Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, et al. The sequence of the human genome. Science 2001;291:1304–51.Google Scholar

  • 6.

    Watson J, Crick FH. Molecular structure of nucleic acids. Nature 1953;171:737–8.Google Scholar

  • 7.

    Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977;74:5463–7.Google Scholar

  • 8.

    Feinberg AP, Tycko B. The history of cancer epigenetics. Nat Rev Cancer 2004;4:143–53.CrossrefGoogle Scholar

  • 9.

    Fraga MF, Ballestar E, Paz MF, Ropero S, Setien F, Ballestar ML, et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA 2005;102:10604–9.Google Scholar

  • 10.

    Wong CC, Meaburn EL, Ronald A, Price TS, Jeffries AR, Schalkwyk LC, et al. Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits. Mol Psychiatry 2014;19:495–503.Web of ScienceGoogle Scholar

  • 11.

    The GTEx Consortium. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans. Science 2015;348:648–60.Google Scholar

  • 12.

    Melé M, Ferreira PG, Reverter F, Deluca DS, Monlong J, Sammeth M, et al. The human transcriptome across tissues and individuals. Science 2015;348:660–5.Web of ScienceGoogle Scholar

  • 13.

    Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, et al. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science 2015;348:666–9.Web of ScienceGoogle Scholar

  • 14.

    Baran Y, Subramaniam M, Biton A, Tukiainen T, Tsang EK, Rivas MA, et al. The landscape of genomic imprinting across diverse adult human tissues. Genome Res 2015.Web of ScienceCrossrefGoogle Scholar

  • 15.

    Pierson E, Koller D, Battle A, Mostafavi S. Sharing and specificity of co-expression networks across 35 human tissues. PLoS Comput Biol 2015;11:1–19.CrossrefWeb of ScienceGoogle Scholar

  • 16.

    Pirinen M, Lappalainen T, Zaitlen NA, and GTEx Consortium, Dermitzakis ET, Donnelly P, McCarthy MI, et al. Assessing allele specific expression across multiple tissues from RNA-seq read data. Bioinformatics 2015, Epub ahead of print 27 Mar 2015.CrossrefGoogle Scholar

  • 17.

    Berger SL, Kouzarides T, Shiekhattar R, Shilatifard A. An operational definition of epigenetics. Genes Dev 2009;23:781–3.Web of ScienceGoogle Scholar

  • 18.

    Ecker JR, Bickmore WA, Barroso I, Pritchard JK, Gilad Y, Segal E. Genomics: ENCODE explained. Nature 2012;489:52–5.Google Scholar

  • 19.

    Skipper M, Eccleston A, Gray N, Heemels T, Le Bot N, Marte B, et al. Presenting the epigenome roadmap. Nature 2015;518:313.Google Scholar

  • 20.

    Consortium RE, Kundaje A, Meuleman W, Ernst J, Bilenky M, Yen A, et al. Integrative analysis of 111 reference human epigenomes. Nature 2015;518:317–30.Web of ScienceGoogle Scholar

  • 21.

    Leung D, Jung I, Rajagopal N, Schmitt A, Selvaraj S, Lee AY, et al. Integrative analysis of haplotype-resolved epigenomes across human tissues. Nature 2015;518:350–4.Web of ScienceGoogle Scholar

  • 22.

    Calvanese V, Lara E, Kahn A, Fraga MF. The role of epigenetics in aging and age-related diseases. Ageing Res Rev 2009;8: 268–76.CrossrefGoogle Scholar

  • 23.

    Johnson AA, Akman K, Calimport SR, Wuttke D, Stolzing A, de Magalhães JP. The role of DNA methylation in aging, rejuvenation, and age-related Disease. Rejuvenation Res 2012;15:483–94.Web of ScienceGoogle Scholar

About the article

Corresponding author: Cristina Rodríguez-Antona, Hereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain, Phone: +34 917328000, Fax: +34 912246972, E-mail: ; and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain

aMaria Apellaniz-Ruiz, Cristina Gallego and Sara Ruiz-Pinto contributed equally to this work.


Received: 2015-08-31

Accepted: 2015-10-19

Published Online: 2015-11-18

Published in Print: 2016-03-01


Citation Information: Drug Metabolism and Personalized Therapy, Volume 31, Issue 1, Pages 3–8, ISSN (Online) 2363-8915, ISSN (Print) 2363-8907, DOI: https://doi.org/10.1515/dmpt-2015-0032.

Export Citation

©2016 by De Gruyter.Get Permission

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Teruaki TOZAKI, Fumio SATO, Mutsuki ISHIMARU, Mio KIKUCHI, Hironaga KAKOI, Kei-ichi HIROTA, and Shun-ichi NAGATA
Journal of Equine Science, 2016, Volume 27, Number 3, Page 107
[2]
C. Lacoste, A. Fabre, C. Pécheux, N. Lévy, M. Krahn, P. Malzac, N. Bonello-Palot, C. Badens, and P. Bourgeois
Archives de Pédiatrie, 2017, Volume 24, Number 4, Page 373

Comments (0)

Please log in or register to comment.
Log in