IDEAS home Printed from https://ideas.repec.org/a/plo/pgen00/1008007.html
   My bibliography  Save this article

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci

Author

Listed:
  • Jiafen Gong
  • Fan Wang
  • Bowei Xiao
  • Naim Panjwani
  • Fan Lin
  • Katherine Keenan
  • Julie Avolio
  • Mohsen Esmaeili
  • Lin Zhang
  • Gengming He
  • David Soave
  • Scott Mastromatteo
  • Zeynep Baskurt
  • Sangook Kim
  • Wanda K O’Neal
  • Deepika Polineni
  • Scott M Blackman
  • Harriet Corvol
  • Garry R Cutting
  • Mitchell Drumm
  • Michael R Knowles
  • Johanna M Rommens
  • Lei Sun
  • Lisa J Strug

Abstract

Cystic Fibrosis (CF) exhibits morbidity in several organs, including progressive lung disease in all patients and intestinal obstruction at birth (meconium ileus) in ~15%. Individuals with the same causal CFTR mutations show variable disease presentation which is partly attributed to modifier genes. With >6,500 participants from the International CF Gene Modifier Consortium, genome-wide association investigation identified a new modifier locus for meconium ileus encompassing ATP12A on chromosome 13 (min p = 3.83x10-10); replicated loci encompassing SLC6A14 on chromosome X and SLC26A9 on chromosome 1, (min p

Suggested Citation

  • Jiafen Gong & Fan Wang & Bowei Xiao & Naim Panjwani & Fan Lin & Katherine Keenan & Julie Avolio & Mohsen Esmaeili & Lin Zhang & Gengming He & David Soave & Scott Mastromatteo & Zeynep Baskurt & Sangoo, 2019. "Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci," PLOS Genetics, Public Library of Science, vol. 15(2), pages 1-36, February.
  • Handle: RePEc:plo:pgen00:1008007
    DOI: 10.1371/journal.pgen.1008007
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008007
    Download Restriction: no

    File URL: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1008007&type=printable
    Download Restriction: no

    File URL: https://libkey.io/10.1371/journal.pgen.1008007?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    References listed on IDEAS

    as
    1. Oliver Stegle & Leopold Parts & Richard Durbin & John Winn, 2010. "A Bayesian Framework to Account for Complex Non-Genetic Factors in Gene Expression Levels Greatly Increases Power in eQTL Studies," PLOS Computational Biology, Public Library of Science, vol. 6(5), pages 1-11, May.
    2. John D. Storey, 2002. "A direct approach to false discovery rates," Journal of the Royal Statistical Society Series B, Royal Statistical Society, vol. 64(3), pages 479-498, August.
    3. Claudia Giambartolomei & Damjan Vukcevic & Eric E Schadt & Lude Franke & Aroon D Hingorani & Chris Wallace & Vincent Plagnol, 2014. "Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics," PLOS Genetics, Public Library of Science, vol. 10(5), pages 1-15, May.
    4. Xiaoquan Wen & Roger Pique-Regi & Francesca Luca, 2017. "Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization," PLOS Genetics, Public Library of Science, vol. 13(3), pages 1-25, March.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Seong Kyu Han & Michelle T. McNulty & Christopher J. Benway & Pei Wen & Anya Greenberg & Ana C. Onuchic-Whitford & Dongkeun Jang & Jason Flannick & Noël P. Burtt & Parker C. Wilson & Benjamin D. Humph, 2023. "Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    2. Naim Panjwani & Fan Wang & Scott Mastromatteo & Allen Bao & Cheng Wang & Gengming He & Jiafen Gong & Johanna M Rommens & Lei Sun & Lisa J Strug, 2020. "LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS," PLOS Computational Biology, Public Library of Science, vol. 16(10), pages 1-8, October.
    3. Satria P. Sajuthi & Jamie L. Everman & Nathan D. Jackson & Benjamin Saef & Cydney L. Rios & Camille M. Moore & Angel C. Y. Mak & Celeste Eng & Ana Fairbanks-Mahnke & Sandra Salazar & Jennifer Elhawary, 2022. "Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    4. María Gordillo-Marañón & Magdalena Zwierzyna & Pimphen Charoen & Fotios Drenos & Sandesh Chopade & Tina Shah & Jorgen Engmann & Nishi Chaturvedi & Olia Papacosta & Goya Wannamethee & Andrew Wong & Ree, 2021. "Validation of lipid-related therapeutic targets for coronary heart disease prevention using human genetics," Nature Communications, Nature, vol. 12(1), pages 1-12, December.
    5. Anqi Zhu & Nana Matoba & Emma P Wilson & Amanda L Tapia & Yun Li & Joseph G Ibrahim & Jason L Stein & Michael I Love, 2021. "MRLocus: Identifying causal genes mediating a trait through Bayesian estimation of allelic heterogeneity," PLOS Genetics, Public Library of Science, vol. 17(4), pages 1-24, April.
    6. Andrew A. Brown & Juan J. Fernandez-Tajes & Mun-gwan Hong & Caroline A. Brorsson & Robert W. Koivula & David Davtian & Théo Dupuis & Ambra Sartori & Theodora-Dafni Michalettou & Ian M. Forgie & Jonath, 2023. "Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
    7. Xinyuan Dong & Yu-Ru Su & Richard Barfield & Stephanie A Bien & Qianchuan He & Tabitha A Harrison & Jeroen R Huyghe & Temitope O Keku & Noralane M Lindor & Clemens Schafmayer & Andrew T Chan & Stephen, 2020. "A general framework for functionally informed set-based analysis: Application to a large-scale colorectal cancer study," PLOS Genetics, Public Library of Science, vol. 16(8), pages 1-21, August.
    8. Sébastien Thériault & Zhonglin Li & Erik Abner & Jian’an Luan & Hasanga D. Manikpurage & Ursula Houessou & Pardis Zamani & Mewen Briend & Dominique K. Boudreau & Nathalie Gaudreault & Lily Frenette & , 2024. "Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
    9. Jayshree Advani & Puja A. Mehta & Andrew R. Hamel & Sudeep Mehrotra & Christina Kiel & Tobias Strunz & Ximena Corso-Díaz & Madeline Kwicklis & Freekje Asten & Rinki Ratnapriya & Emily Y. Chew & Dena G, 2024. "QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
    10. Thorunn A. Olafsdottir & Gudmar Thorleifsson & Aitzkoa Lopez de Lapuente Portilla & Stefan Jonsson & Lilja Stefansdottir & Abhishek Niroula & Aslaug Jonasdottir & Hannes P. Eggertsson & Gisli H. Halld, 2024. "Sequence variants influencing the regulation of serum IgG subclass levels," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
    11. Yangqing Deng & Wei Pan, 2020. "A powerful and versatile colocalization test," PLOS Computational Biology, Public Library of Science, vol. 16(4), pages 1-18, April.
    12. Ryo Yamamoto & Ryan Chung & Juan Manuel Vazquez & Huanjie Sheng & Philippa L. Steinberg & Nilah M. Ioannidis & Peter H. Sudmant, 2022. "Tissue-specific impacts of aging and genetics on gene expression patterns in humans," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    13. Francesco Bettella & Andrew A Brown & Olav B Smeland & Yunpeng Wang & Aree Witoelar & Alfonso A Buil Demur & Wesley K Thompson & Verena Zuber & Anders M Dale & Srdjan Djurovic & Ole A Andreassen, 2018. "Cross-tissue eQTL enrichment of associations in schizophrenia," PLOS ONE, Public Library of Science, vol. 13(9), pages 1-17, September.
    14. James J. Gilchrist & Seiko Makino & Vivek Naranbhai & Piyush K. Sharma & Surya Koturan & Orion Tong & Chelsea A. Taylor & Robert A. Watson & Alba Verge los Aires & Rosalin Cooper & Evelyn Lau & Sara D, 2022. "Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
    15. Youngchao Ge & Sandrine Dudoit & Terence Speed, 2003. "Resampling-based multiple testing for microarray data analysis," TEST: An Official Journal of the Spanish Society of Statistics and Operations Research, Springer;Sociedad de Estadística e Investigación Operativa, vol. 12(1), pages 1-77, June.
    16. Jacob Joseph & Chang Liu & Qin Hui & Krishna Aragam & Zeyuan Wang & Brian Charest & Jennifer E. Huffman & Jacob M. Keaton & Todd L. Edwards & Serkalem Demissie & Luc Djousse & Juan P. Casas & J. Micha, 2022. "Genetic architecture of heart failure with preserved versus reduced ejection fraction," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
    17. Bajgrowicz, Pierre & Scaillet, Olivier, 2012. "Technical trading revisited: False discoveries, persistence tests, and transaction costs," Journal of Financial Economics, Elsevier, vol. 106(3), pages 473-491.
    18. Natalie DeForest & Yuqi Wang & Zhiyi Zhu & Jacqueline S. Dron & Ryan Koesterer & Pradeep Natarajan & Jason Flannick & Tiffany Amariuta & Gina M. Peloso & Amit R. Majithia, 2024. "Genome-wide discovery and integrative genomic characterization of insulin resistance loci using serum triglycerides to HDL-cholesterol ratio as a proxy," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
    19. Julia Schröder & Vitalia Schüller & Andrea May & Christian Gerges & Mario Anders & Jessica Becker & Timo Hess & Nicole Kreuser & René Thieme & Kerstin U Ludwig & Tania Noder & Marino Venerito & Lothar, 2019. "Identification of loci of functional relevance to Barrett’s esophagus and esophageal adenocarcinoma: Cross-referencing of expression quantitative trait loci data from disease-relevant tissues with gen," PLOS ONE, Public Library of Science, vol. 14(12), pages 1-12, December.
    20. Wen Shi & Xi Chen & Jennifer Shang, 2019. "An Efficient Morris Method-Based Framework for Simulation Factor Screening," INFORMS Journal on Computing, INFORMS, vol. 31(4), pages 745-770, October.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:plo:pgen00:1008007. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: plosgenetics (email available below). General contact details of provider: https://journals.plos.org/plosgenetics/ .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.