IDEAS home Printed from https://ideas.repec.org/a/plo/pone00/0075897.html
   My bibliography  Save this article

Weighted SNP Set Analysis in Genome-Wide Association Study

Author

Listed:
  • Hui Dai
  • Yang Zhao
  • Cheng Qian
  • Min Cai
  • Ruyang Zhang
  • Minjie Chu
  • Juncheng Dai
  • Zhibin Hu
  • Hongbing Shen
  • Feng Chen

Abstract

Genome-wide association studies (GWAS) are popular for identifying genetic variants which are associated with disease risk. Many approaches have been proposed to test multiple single nucleotide polymorphisms (SNPs) in a region simultaneously which considering disadvantages of methods in single locus association analysis. Kernel machine based SNP set analysis is more powerful than single locus analysis, which borrows information from SNPs correlated with causal or tag SNPs. Four types of kernel machine functions and principal component based approach (PCA) were also compared. However, given the loss of power caused by low minor allele frequencies (MAF), we conducted an extension work on PCA and used a new method called weighted PCA (wPCA). Comparative analysis was performed for weighted principal component analysis (wPCA), logistic kernel machine based test (LKM) and principal component analysis (PCA) based on SNP set in the case of different minor allele frequencies (MAF) and linkage disequilibrium (LD) structures. We also applied the three methods to analyze two SNP sets extracted from a real GWAS dataset of non-small cell lung cancer in Han Chinese population. Simulation results show that when the MAF of the causal SNP is low, weighted principal component and weighted IBS are more powerful than PCA and other kernel machine functions at different LD structures and different numbers of causal SNPs. Application of the three methods to a real GWAS dataset indicates that wPCA and wIBS have better performance than the linear kernel, IBS kernel and PCA.

Suggested Citation

  • Hui Dai & Yang Zhao & Cheng Qian & Min Cai & Ruyang Zhang & Minjie Chu & Juncheng Dai & Zhibin Hu & Hongbing Shen & Feng Chen, 2013. "Weighted SNP Set Analysis in Genome-Wide Association Study," PLOS ONE, Public Library of Science, vol. 8(9), pages 1-7, September.
    • Handle: RePEc:plo:pone00:0075897
    DOI: 10.1371/journal.pone.0075897
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075897
    Download Restriction: no
    File URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0075897&type=printable
    Download Restriction: no
    File URL: https://libkey.io/10.1371/journal.pone.0075897?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. 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.
    2. Yang Zhao & Feng Chen & Rihong Zhai & Xihong Lin & Nancy Diao & David C Christiani, 2012. "Association Test Based on SNP Set: Logistic Kernel Machine Based Test vs. Principal Component Analysis," PLOS ONE, Public Library of Science, vol. 7(9), pages 1-11, September.
    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. 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.
    2. 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.
    3. 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.
    4. Dørum Guro & Snipen Lars & Solheim Margrete & Saebo Solve, 2011. "Smoothing Gene Expression Data with Network Information Improves Consistency of Regulated Genes," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 10(1), pages 1-26, August.
    5. Jianqing Fan & Xu Han, 2017. "Estimation of the false discovery proportion with unknown dependence," Journal of the Royal Statistical Society Series B, Royal Statistical Society, vol. 79(4), pages 1143-1164, September.
    6. A Bottle & P Aylin, 2011. "Predicting the false alarm rate in multi-institution mortality monitoring," Journal of the Operational Research Society, Palgrave Macmillan;The OR Society, vol. 62(9), pages 1711-1718, September.
    7. Van Hanh Nguyen & Catherine Matias, 2014. "On Efficient Estimators of the Proportion of True Null Hypotheses in a Multiple Testing Setup," Scandinavian Journal of Statistics, Danish Society for Theoretical Statistics;Finnish Statistical Society;Norwegian Statistical Association;Swedish Statistical Association, vol. 41(4), pages 1167-1194, December.
    8. Shigeyuki Matsui & Hisashi Noma, 2011. "Estimating Effect Sizes of Differentially Expressed Genes for Power and Sample-Size Assessments in Microarray Experiments," Biometrics, The International Biometric Society, vol. 67(4), pages 1225-1235, December.
    9. Lianming Wang & David B. Dunson, 2010. "Semiparametric Bayes Multiple Testing: Applications to Tumor Data," Biometrics, The International Biometric Society, vol. 66(2), pages 493-501, June.
    10. Ebrahimi, Nader, 2008. "Simultaneous control of false positives and false negatives in multiple hypotheses testing," Journal of Multivariate Analysis, Elsevier, vol. 99(3), pages 437-450, March.
    11. B. Moerkerke & E. Goetghebeur & J. De Riek & I. Roldán‐Ruiz, 2006. "Significance and impotence: towards a balanced view of the null and the alternative hypotheses in marker selection for plant breeding," Journal of the Royal Statistical Society Series A, Royal Statistical Society, vol. 169(1), pages 61-79, January.
    12. Zaili Fang & Inyoung Kim & Jeesun Jung, 2018. "Semiparametric Kernel-Based Regression for Evaluating Interaction Between Pathway Effect and Covariate," Journal of Agricultural, Biological and Environmental Statistics, Springer;The International Biometric Society;American Statistical Association, vol. 23(1), pages 129-152, March.
    13. Mark Rempel, 2016. "Improving Overnight Loan Identification in Payments Systems," Journal of Money, Credit and Banking, Blackwell Publishing, vol. 48(2-3), pages 549-564, March.
    14. Timothy B. Armstrong, 2014. "Adaptive Testing on a Regression Function at a Point," Cowles Foundation Discussion Papers 1957R, Cowles Foundation for Research in Economics, Yale University, revised Feb 2015.
    15. Nucera, Federico & Valente, Giorgio, 2013. "Carry trades and the performance of currency hedge funds," Journal of International Money and Finance, Elsevier, vol. 33(C), pages 407-425.
    16. Nickole Moon & Christopher P. Morgan & Ruth Marx-Rattner & Alyssa Jeng & Rachel L. Johnson & Ijeoma Chikezie & Carmen Mannella & Mary D. Sammel & C. Neill Epperson & Tracy L. Bale, 2024. "Stress increases sperm respiration and motility in mice and men," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
    17. Axel Gandy & Georg Hahn, 2016. "A Framework for Monte Carlo based Multiple Testing," Scandinavian Journal of Statistics, Danish Society for Theoretical Statistics;Finnish Statistical Society;Norwegian Statistical Association;Swedish Statistical Association, vol. 43(4), pages 1046-1063, December.
    18. Sinha, Sanjoy K. & Kaushal, Amit & Xiao, Wenzhong, 2014. "Inference for longitudinal data with nonignorable nonmonotone missing responses," Computational Statistics & Data Analysis, Elsevier, vol. 72(C), pages 77-91.
    19. Iain Melvin & Jason Weston & William Stafford Noble & Christina Leslie, 2011. "Detecting Remote Evolutionary Relationships among Proteins by Large-Scale Semantic Embedding," PLOS Computational Biology, Public Library of Science, vol. 7(1), pages 1-8, January.
    20. Min Cai & Hui Dai & Yongyong Qiu & Yang Zhao & Ruyang Zhang & Minjie Chu & Juncheng Dai & Zhibin Hu & Hongbing Shen & Feng Chen, 2013. "SNP Set Association Analysis for Genome-Wide Association Studies," PLOS ONE, Public Library of Science, vol. 8(5), pages 1-10, 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:pone00:0075897. 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.