Jump to ContentJump to Main Navigation
Show Summary Details
More options …

Statistical Applications in Genetics and Molecular Biology

Editor-in-Chief: Sanguinetti, Guido


IMPACT FACTOR 2018: 0.536
5-year IMPACT FACTOR: 0.764

CiteScore 2018: 0.49

SCImago Journal Rank (SJR) 2018: 0.316
Source Normalized Impact per Paper (SNIP) 2018: 0.342

Mathematical Citation Quotient (MCQ) 2018: 0.02

Online
ISSN
1544-6115
See all formats and pricing
More options …
Volume 3, Issue 1

Issues

Volume 10 (2011)

Volume 9 (2010)

Volume 6 (2007)

Volume 5 (2006)

Volume 4 (2005)

Volume 2 (2003)

Volume 1 (2002)

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

E. S Venkatraman / Nandita Mitra / Colin B Begg
Published Online: 2004-10-07 | DOI: https://doi.org/10.2202/1544-6115.1056

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.

Keywords: case-control; haplotype

About the article

Published Online: 2004-10-07


Citation Information: Statistical Applications in Genetics and Molecular Biology, Volume 3, Issue 1, Pages 1–20, ISSN (Online) 1544-6115, DOI: https://doi.org/10.2202/1544-6115.1056.

Export Citation

©2011 Walter de Gruyter GmbH & Co. KG, Berlin/Boston.Get Permission

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Robert C. Millikan, Amanda Hummer, Colin Begg, Jon Player, Allan René de Cotret, Scott Winkel, Harvey Mohrenweiser, Nancy Thomas, Bruce Armstrong, Anne Kricker, Loraine D. Marrett, Stephen B. Gruber, Hoda Anton Culver, Roberto Zanetti, Richard P. Gallagher, Terence Dwyer, Timothy R. Rebbeck, Klaus Busam, Lynn From, Urvi Mujumdar, and Marianne Berwick
Carcinogenesis, 2006, Volume 27, Number 3, Page 610
[2]
Rongrong Xie and Daniel O. Stram
Genetic Epidemiology, 2005, Volume 29, Number 2, Page 166

Comments (0)

Please log in or register to comment.
Log in