IDEAS home Printed from https://ideas.repec.org/a/bpj/sagmbi/v3y2004i1n27.html
   My bibliography  Save this article

A Method for Evaluating the Impact of Individual Haplotypes on Disease Incidence in Molecular Epidemiology Studies

Author

Listed:
  • Venkatraman E. S

    (Memorial Sloan-Kettering Cancer Center)

  • Mitra Nandita

    (Memorial Sloan-Kettering Cancer Center)

  • Begg Colin B

    (Memorial Sloan-Kettering Cancer Center)

Abstract

Estimation of the association between haplotypes and disease from a case-control study is considered. Assuming a single ``disease haplotype'' leads to the increased risk, attention focusses on the relative risks associated with a single copy, or two copies of the disease haplotype, relative to individuals with no copies. In this setting, case frequencies of the haplotype pairs are in Hardy-Weinberg Equilibrium (HWE) only if the combined influence of the two copies of the disease haplotype on risk is multiplicative. Thus, imputation cannot rely on the assumption of HWE for cases. A method is presented for obtaining estimates of the relative risks, making use of the EM algorithm and the assumption of HWE only for controls. The method accounts for the additional variation in the estimates due to the imputation of expected frequencies of haplotype pairs from ambiguous genotypes. A simulation study shows that the resulting confidence intervals have nominal coverage, and that the methods based on the assumption of HWE for both cases and controls can lead to bias.

Suggested Citation

  • Venkatraman E. S & Mitra Nandita & Begg Colin B, 2004. "A Method for Evaluating the Impact of Individual Haplotypes on Disease Incidence in Molecular Epidemiology Studies," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 3(1), pages 1-22, October.
    • Handle: RePEc:bpj:sagmbi:v:3:y:2004:i:1:n:27
    DOI: 10.2202/1544-6115.1056
    as

    Download full text from publisher

    File URL: https://doi.org/10.2202/1544-6115.1056
    Download Restriction: For access to full text, subscription to the journal or payment for the individual article is required.
    File URL: https://libkey.io/10.2202/1544-6115.1056?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
    ---><---

    As the access to this document is restricted, you may want to search for a different version of it.

    Citations

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


    Cited by:

    1. French Benjamin & Lumley Thomas & Cappola Thomas P. & Mitra Nandita, 2012. "Non-Iterative, Regression-Based Estimation of Haplotype Associations with Censored Survival Outcomes," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 11(3), pages 1-24, February.

    More about this item

    Keywords

    case-control; haplotype;

    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:bpj:sagmbi:v:3:y:2004:i:1:n:27. 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.

    We have no bibliographic references for this item. You can help adding them by using 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: Peter Golla (email available below). General contact details of provider: https://www.degruyter.com .

    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.