IDEAS home Printed from https://ideas.repec.org/a/sae/somere/v37y2008i2p201-226.html
   My bibliography  Save this article

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. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. Matthieu Bouaziz & Christophe Ambroise & Mickael Guedj, 2011. "Accounting for Population Stratification in Practice: A Comparison of the Main Strategies Dedicated to Genome-Wide Association Studies," PLOS ONE, Public Library of Science, vol. 6(12), pages 1-13, December.
    8. Aditi Shendre & Howard W Wiener & Marguerite R Irvin & Bradley E Aouizerat & Edgar T Overton & Jason Lazar & Chenglong Liu & Howard N Hodis & Nita A Limdi & Kathleen M Weber & Stephen J Gange & Degui , 2017. "Genome-wide admixture and association study of subclinical atherosclerosis in the Women’s Interagency HIV Study (WIHS)," PLOS ONE, Public Library of Science, vol. 12(12), pages 1-23, December.
    9. Li Shaoyu & Lu Qing & Fu Wenjiang & Romero Roberto & Cui Yuehua, 2009. "A Regularized Regression Approach for Dissecting Genetic Conflicts that Increase Disease Risk in Pregnancy," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 8(1), pages 1-30, October.
    10. Ilja M Nolte & Chris Wallace & Stephen J Newhouse & Daryl Waggott & Jingyuan Fu & Nicole Soranzo & Rhian Gwilliam & Panos Deloukas & Irina Savelieva & Dongling Zheng & Chrysoula Dalageorgou & Martin F, 2009. "Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation: Meta-Analysis of Three Genome-Wide Association Studies," PLOS ONE, Public Library of Science, vol. 4(7), pages 1-10, July.
    11. Nick Patterson & Alkes L Price & David Reich, 2006. "Population Structure and Eigenanalysis," PLOS Genetics, Public Library of Science, vol. 2(12), pages 1-20, December.
    12. Ferguson John P. & Palejev Dean, 2014. "P-value calibration for multiple testing problems in genomics," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 13(6), pages 659-673, December.
    13. Tiago C. Silva & Juan I. Young & Lanyu Zhang & Lissette Gomez & Michael A. Schmidt & Achintya Varma & X. Steven Chen & Eden R. Martin & Lily Wang, 2022. "Cross-tissue analysis of blood and brain epigenome-wide association studies in Alzheimer’s disease," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
    14. Takeshi Nishiyama & Hirohisa Kishino & Sadao Suzuki & Ryosuke Ando & Hideshi Niimura & Hirokazu Uemura & Mikako Horita & Keizo Ohnaka & Nagato Kuriyama & Haruo Mikami & Naoyuki Takashima & Keitaro Mas, 2012. "Detailed Analysis of Japanese Population Substructure with a Focus on the Southwest Islands of Japan," PLOS ONE, Public Library of Science, vol. 7(4), pages 1-7, April.
    15. Zhao Huaqing & Rebbeck Timothy R. & Mitra Nandita, 2012. "Analyzing Genetic Association Studies with an Extended Propensity Score Approach," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 11(5), pages 1-24, October.
    16. Sophie A. Riesmeijer & Zoha Kamali & Michael Ng & Dmitriy Drichel & Bram Piersma & Kerstin Becker & Thomas B. Layton & Jagdeep Nanchahal & Michael Nothnagel & Ahmad Vaez & Hans Christian Hennies & Pau, 2024. "A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren’s disease," Nature Communications, Nature, vol. 15(1), pages 1-11, December.
    17. repec:jss:jstsof:23:i08 is not listed on IDEAS
    18. Peng Chen & Rick Twee-Hee Ong & Wan-Ting Tay & Xueling Sim & Mohammad Ali & Haiyan Xu & Chen Suo & Jianjun Liu & Kee-Seng Chia & Eranga Vithana & Terri L Young & Tin Aung & Wei-Yen Lim & Chiea-Chuen K, 2013. "A Study Assessing the Association of Glycated Hemoglobin A1C (HbA1C) Associated Variants with HbA1C, Chronic Kidney Disease and Diabetic Retinopathy in Populations of Asian Ancestry," PLOS ONE, Public Library of Science, vol. 8(11), pages 1-1, November.
    19. Dan E Arking & M Juhani Junttila & Philippe Goyette & Adriana Huertas-Vazquez & Mark Eijgelsheim & Marieke T Blom & Christopher Newton-Cheh & Kyndaron Reinier & Carmen Teodorescu & Audrey Uy-Evanado &, 2011. "Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals," PLOS Genetics, Public Library of Science, vol. 7(6), pages 1-9, June.
    20. Feng Zhang & Yuping Wang & Hong-Wen Deng, 2008. "Comparison of Population-Based Association Study Methods Correcting for Population Stratification," PLOS ONE, Public Library of Science, vol. 3(10), pages 1-7, October.
    21. Thomas W Winkler & Anne E Justice & L Adrienne Cupples & Florian Kronenberg & Zoltán Kutalik & Iris M Heid & the GIANT consortium, 2017. "Approaches to detect genetic effects that differ between two strata in genome-wide meta-analyses: Recommendations based on a systematic evaluation," PLOS ONE, Public Library of Science, vol. 12(7), pages 1-23, July.

    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.