IDEAS home Printed from https://ideas.repec.org/a/sae/somere/v37y2008i2p201-226.html

How Is a Statistical Link Established Between a Human Outcome and a Genetic Variant?

Author

Listed:
  • Guang Guo

    (University of North Carolina at Chapel Hill, guang_guo@unc.edu)

  • Daniel E. Adkins

    (University of North Carolina at Chapel Hill)

Abstract

The objective of this article is to provide a nontechnical and intuitive introduction to the basic concepts and techniques that are used to establish statistical connections between genetic variants and human phenotypes. Depressive symptoms and delinquent behaviors that are of interest to sociologists are a subset of such human phenotypes. This article focuses on basic linkage analysis and association studies, the essential ideas behind the methods, and a very limited amount of molecular genetics needed for understanding the ideas. The article is written with those social scientists in mind who are interested in the topic but not yet ready to engage the vast and rapidly developing primary literature (journal articles).

Suggested Citation

  • Guang Guo & Daniel E. Adkins, 2008. "How Is a Statistical Link Established Between a Human Outcome and a Genetic Variant?," Sociological Methods & Research, , vol. 37(2), pages 201-226, November.
  • Handle: RePEc:sae:somere:v:37:y:2008:i:2:p:201-226
    DOI: 10.1177/0049124108324526
    as

    Download full text from publisher

    File URL: https://journals.sagepub.com/doi/10.1177/0049124108324526
    Download Restriction: no

    File URL: https://libkey.io/10.1177/0049124108324526?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. B. Devlin & Kathryn Roeder, 1999. "Genomic Control for Association Studies," Biometrics, The International Biometric Society, vol. 55(4), pages 997-1004, December.
    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. Lei Zhang & Yu-Fang Pei & Jian Li & Christopher J Papasian & Hong-Wen Deng, 2009. "Univariate/Multivariate Genome-Wide Association Scans Using Data from Families and Unrelated Samples," PLOS ONE, Public Library of Science, vol. 4(8), pages 1-12, August.
    2. Elaine T. Lim & Yingleong Chan & Pepper Dawes & Xiaoge Guo & Serkan Erdin & Derek J. C. Tai & Songlei Liu & Julia M. Reichert & Mannix J. Burns & Ying Kai Chan & Jessica J. Chiang & Katharina Meyer & , 2022. "Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
    3. Dominic Holland & Oleksandr Frei & Rahul Desikan & Chun-Chieh Fan & Alexey A Shadrin & Olav B Smeland & V S Sundar & Paul Thompson & Ole A Andreassen & Anders M Dale, 2020. "Beyond SNP heritability: Polygenicity and discoverability of phenotypes estimated with a univariate Gaussian mixture model," PLOS Genetics, Public Library of Science, vol. 16(5), pages 1-30, May.
    4. Vincent Michaud & Eulalie Lasseaux & David J. Green & Dave T. Gerrard & Claudio Plaisant & Tomas Fitzgerald & Ewan Birney & Benoît Arveiler & Graeme C. Black & Panagiotis I. Sergouniotis, 2022. "The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism," Nature Communications, Nature, vol. 13(1), pages 1-8, December.
    5. 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.
    6. Parsa Akbari & Dragana Vuckovic & Luca Stefanucci & Tao Jiang & Kousik Kundu & Roman Kreuzhuber & Erik L. Bao & Janine H. Collins & Kate Downes & Luigi Grassi & Jose A. Guerrero & Stephen Kaptoge & Ju, 2023. "A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology," Nature Communications, Nature, vol. 14(1), pages 1-19, December.
    7. repec:plo:pgen00:0020137 is not listed on IDEAS
    8. Gang Zheng & Zhaohai Li & Mitchell H. Gail & Joseph L. Gastwirth, 2010. "Impact of Population Substructure on Trend Tests for Genetic Case–Control Association Studies," Biometrics, The International Biometric Society, vol. 66(1), pages 196-204, March.
    9. Marie-Claude Babron & Marie de Tayrac & Douglas N Rutledge & Eleftheria Zeggini & Emmanuelle Génin, 2012. "Rare and Low Frequency Variant Stratification in the UK Population: Description and Impact on Association Tests," PLOS ONE, Public Library of Science, vol. 7(10), pages 1-9, October.
    10. repec:plo:pone00:0029848 is not listed on IDEAS
    11. Sandosh Padmanabhan & Olle Melander & Toby Johnson & Anna Maria Di Blasio & Wai K Lee & Davide Gentilini & Claire E Hastie & Cristina Menni & Maria Cristina Monti & Christian Delles & Stewart Laing & , 2010. "Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension," PLOS Genetics, Public Library of Science, vol. 6(10), pages 1-11, October.
    12. Jakris Eu-ahsunthornwattana & E Nancy Miller & Michaela Fakiola & Wellcome Trust Case Control Consortium 2 & Selma M B Jeronimo & Jenefer M Blackwell & Heather J Cordell, 2014. "Comparison of Methods to Account for Relatedness in Genome-Wide Association Studies with Family-Based Data," PLOS Genetics, Public Library of Science, vol. 10(7), pages 1-20, July.
    13. H. Zhang & G. Zheng & Z. Li, 2006. "Statistical Analysis for Haplotype-Based Matched Case–Control Studies," Biometrics, The International Biometric Society, vol. 62(4), pages 1124-1131, December.
    14. Ning Jiang & Minghui Wang & Tianye Jia & Lin Wang & Lindsey Leach & Christine Hackett & David Marshall & Zewei Luo, 2011. "A Robust Statistical Method for Association-Based eQTL Analysis," PLOS ONE, Public Library of Science, vol. 6(8), pages 1-11, August.
    15. André X C N Valente & Joseph Zischkau & Joo Heon Shin & Yuan Gao & Abhijit Sarkar, 2012. "Genome-Wide Association Study Heterogeneous Cohort Homogenization via Subject Weight Knock-Down," PLOS ONE, Public Library of Science, vol. 7(10), pages 1-10, October.
    16. Arend Voorman & Thomas Lumley & Barbara McKnight & Kenneth Rice, 2011. "Behavior of QQ-Plots and Genomic Control in Studies of Gene-Environment Interaction," PLOS ONE, Public Library of Science, vol. 6(5), pages 1-7, May.
    17. Jianzhong Ma & Christopher I Amos, 2010. "Theoretical Formulation of Principal Components Analysis to Detect and Correct for Population Stratification," PLOS ONE, Public Library of Science, vol. 5(9), pages 1-14, September.
    18. Claire L Simpson & Robert Wojciechowski & Konrad Oexle & Federico Murgia & Laura Portas & Xiaohui Li & Virginie J M Verhoeven & Veronique Vitart & Maria Schache & S Mohsen Hosseini & Pirro G Hysi & Le, 2014. "Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci," PLOS ONE, Public Library of Science, vol. 9(9), pages 1-19, September.
    19. Allan F McRae & Melinda M Richter & Penelope A Lind, 2013. "Case-Control Association Testing of Common Variants from Sequencing of DNA Pools," PLOS ONE, Public Library of Science, vol. 8(6), pages 1-4, June.
    20. William J. Young & Najim Lahrouchi & Aaron Isaacs & ThuyVy Duong & Luisa Foco & Farah Ahmed & Jennifer A. Brody & Reem Salman & Raymond Noordam & Jan-Walter Benjamins & Jeffrey Haessler & Leo-Pekka Ly, 2022. "Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
    21. repec:plo:pone00:0005825 is not listed on IDEAS
    22. Seppe Goovaerts & Hanne Hoskens & Ryan J. Eller & Noah Herrick & Anthony M. Musolf & Cristina M. Justice & Meng Yuan & Sahin Naqvi & Myoung Keun Lee & Dirk Vandermeulen & Heather L. Szabo-Rogers & Pau, 2023. "Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape," Nature Communications, Nature, vol. 14(1), pages 1-21, December.
    23. Simon Wiegrebe & Mathias Gorski & Janina M. Herold & Klaus J. Stark & Barbara Thorand & Christian Gieger & Carsten A. Böger & Johannes Schödel & Florian Hartig & Han Chen & Thomas W. Winkler & Helmut , 2024. "Analyzing longitudinal trait trajectories using GWAS identifies genetic variants for kidney function decline," Nature Communications, Nature, vol. 15(1), pages 1-13, December.

    More about this item

    Keywords

    ;
    ;
    ;
    ;

    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:sae:somere:v:37:y:2008:i:2:p:201-226. 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: SAGE Publications (email available below). General contact details of provider: .

    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.