IDEAS home Printed from https://ideas.repec.org/a/plo/pone00/0002551.html
   My bibliography  Save this article

Population Substructure and Control Selection in Genome-Wide Association Studies

Author

Listed:
  • Kai Yu
  • Zhaoming Wang
  • Qizhai Li
  • Sholom Wacholder
  • David J Hunter
  • Robert N Hoover
  • Stephen Chanock
  • Gilles Thomas

Abstract

Determination of the relevance of both demanding classical epidemiologic criteria for control selection and robust handling of population stratification (PS) represents a major challenge in the design and analysis of genome-wide association studies (GWAS). Empirical data from two GWAS in European Americans of the Cancer Genetic Markers of Susceptibility (CGEMS) project were used to evaluate the impact of PS in studies with different control selection strategies. In each of the two original case-control studies nested in corresponding prospective cohorts, a minor confounding effect due to PS (inflation factor λ of 1.025 and 1.005) was observed. In contrast, when the control groups were exchanged to mimic a cost-effective but theoretically less desirable control selection strategy, the confounding effects were larger (λ of 1.090 and 1.062). A panel of 12,898 autosomal SNPs common to both the Illumina and Affymetrix commercial platforms and with low local background linkage disequilibrium (pair-wise r2

Suggested Citation

  • Kai Yu & Zhaoming Wang & Qizhai Li & Sholom Wacholder & David J Hunter & Robert N Hoover & Stephen Chanock & Gilles Thomas, 2008. "Population Substructure and Control Selection in Genome-Wide Association Studies," PLOS ONE, Public Library of Science, vol. 3(7), pages 1-14, July.
    • Handle: RePEc:plo:pone00:0002551
    DOI: 10.1371/journal.pone.0002551
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0002551
    Download Restriction: no
    File URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0002551&type=printable
    Download Restriction: no
    File URL: https://libkey.io/10.1371/journal.pone.0002551?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.
    2. Chao Tian & Robert M Plenge & Michael Ransom & Annette Lee & Pablo Villoslada & Carlo Selmi & Lars Klareskog & Ann E Pulver & Lihong Qi & Peter K Gregersen & Michael F Seldin, 2008. "Analysis and Application of European Genetic Substructure Using 300 K SNP Information," PLOS Genetics, Public Library of Science, vol. 4(1), pages 1-11, January.
    3. 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.
    Full references (including those not matched with items on IDEAS)

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Zhaoming Wang & Allan Hildesheim & Sophia S Wang & Rolando Herrero & Paula Gonzalez & Laurie Burdette & Amy Hutchinson & Gilles Thomas & Stephen J Chanock & Kai Yu, 2010. "Genetic Admixture and Population Substructure in Guanacaste Costa Rica," PLOS ONE, Public Library of Science, vol. 5(10), pages 1-10, October.
    2. Wang, Linglu & Li, Qizhai & Li, Zhaohai & Zheng, Gang, 2011. "Bayes factors in the presence of population stratification," Statistics & Probability Letters, Elsevier, vol. 81(7), pages 836-841, July.
    3. Jianzhong Ma & Christopher I Amos, 2012. "Principal Components Analysis of Population Admixture," PLOS ONE, Public Library of Science, vol. 7(7), pages 1-12, July.

    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. Peristera Paschou & Petros Drineas & Jamey Lewis & Caroline M Nievergelt & Deborah A Nickerson & Joshua D Smith & Paul M Ridker & Daniel I Chasman & Ronald M Krauss & Elad Ziv, 2008. "Tracing Sub-Structure in the European American Population with PCA-Informative Markers," PLOS Genetics, Public Library of Science, vol. 4(7), pages 1-13, July.
    2. 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.
    3. Andrey V Khrunin & Denis V Khokhrin & Irina N Filippova & Tõnu Esko & Mari Nelis & Natalia A Bebyakova & Natalia L Bolotova & Janis Klovins & Liene Nikitina-Zake & Karola Rehnström & Samuli Ripatti & , 2013. "A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe," PLOS ONE, Public Library of Science, vol. 8(3), pages 1-9, March.
    4. 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.
    5. 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.
    6. Jianzhong Ma & Christopher I Amos, 2012. "Investigation of Inversion Polymorphisms in the Human Genome Using Principal Components Analysis," PLOS ONE, Public Library of Science, vol. 7(7), pages 1-12, July.
    7. Eric R Londin & Margaret A Keller & Cathleen Maista & Gretchen Smith & Laura A Mamounas & Ran Zhang & Steven J Madore & Katrina Gwinn & Roderick A Corriveau, 2010. "CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins," PLOS ONE, Public Library of Science, vol. 5(10), pages 1-12, October.
    8. Markus Neuditschko & Mehar S Khatkar & Herman W Raadsma, 2012. "NetView: A High-Definition Network-Visualization Approach to Detect Fine-Scale Population Structures from Genome-Wide Patterns of Variation," PLOS ONE, Public Library of Science, vol. 7(10), pages 1-13, October.
    9. 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.
    10. 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.
    11. Thomas Charlon & Manuel Martínez-Bueno & Lara Bossini-Castillo & F David Carmona & Alessandro Di Cara & Jérôme Wojcik & Sviatoslav Voloshynovskiy & Javier Martín & Marta E Alarcón-Riquelme, 2016. "Single Nucleotide Polymorphism Clustering in Systemic Autoimmune Diseases," PLOS ONE, Public Library of Science, vol. 11(8), pages 1-10, August.
    12. Aman Agrawal & Alec M Chiu & Minh Le & Eran Halperin & Sriram Sankararaman, 2020. "Scalable probabilistic PCA for large-scale genetic variation data," PLOS Genetics, Public Library of Science, vol. 16(5), pages 1-19, May.
    13. Li, Zhaohai & Zhang, Hong & Zheng, Gang & Gastwirth, Joseph L. & Gail, Mitchell H., 2009. "Excess false positive rate caused by population stratification and disease rate heterogeneity in case-control association studies," Computational Statistics & Data Analysis, Elsevier, vol. 53(5), pages 1767-1781, March.
    14. Zhao Huaqing & Mitra Nandita & Kanetsky Peter A. & Nathanson Katherine L. & Rebbeck Timothy R., 2018. "A practical approach to adjusting for population stratification in genome-wide association studies: principal components and propensity scores (PCAPS)," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 17(6), pages 1-12, December.
    15. 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.
    16. 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.
    17. 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.
    18. Gyaneshwer Chaubey & Anurag Kadian & Saroj Bala & Vadlamudi Raghavendra Rao, 2015. "Genetic Affinity of the Bhil, Kol and Gond Mentioned in Epic Ramayana," PLOS ONE, Public Library of Science, vol. 10(6), pages 1-11, June.
    19. Daniel Svensson & Matilda Rentoft & Anna M Dahlin & Emma Lundholm & Pall I Olason & Andreas Sjödin & Carin Nylander & Beatrice S Melin & Johan Trygg & Erik Johansson, 2020. "A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences," PLOS ONE, Public Library of Science, vol. 15(9), pages 1-18, September.
    20. Marina Muzzio & Josefina M B Motti & Paula B Paz Sepulveda & Muh-ching Yee & Thomas Cooke & María R Santos & Virginia Ramallo & Emma L Alfaro & Jose E Dipierri & Graciela Bailliet & Claudio M Bravi & , 2018. "Population structure in Argentina," PLOS ONE, Public Library of Science, vol. 13(5), pages 1-13, May.

    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:pone00:0002551. 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: plosone (email available below). General contact details of provider: https://journals.plos.org/plosone/ .

    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.