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Original Paper

A Model for Fine Mapping in Family Based Association Studies

Boehringer S.a · Pfeiffer R.M.b

Author affiliations

aInstitut für Humangenetik, Universitätsklinikum Essen, Essen, Germany; bBiostatistics Branch, National Cancer Institute, Bethesda, Md., USA

Corresponding Author

Stefan Boehringer

Institut für Humangenetik, Universitätsklinikum Essen

Hufelandstr. 55, DE–45122 Essen (Germany)

Tel. +49 201 723 4533, Fax +49 201 735 5900

E-Mail correspondence@s-boehringer.org

Related Articles for ""

Hum Hered 2009;67:226–236

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Genome wide association studies for complex diseases are typically followed by more focused characterization of the identified genetic region. We propose a latent class model to evaluate a candidate region with several measured markers using observations on families. The main goal is to estimate linkage disequilibrium (LD) between the observed markers and the putative true but unobserved disease locus in the region. Based on this model, we estimate the joint distribution of alleles at the observed markers and the unobserved true disease locus, and a penetrance parameter measuring the impact of the disease allele on disease risk. A family specific random effect allows for varying baseline disease prevalences for different families. We present a likelihood framework for our model and assess its properties in simulations. We apply the model to an Alzheimer data set and confirm previous findings in the ApoE region.

© 2009 S. Karger AG, Basel

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: March 06, 2008
Accepted: April 08, 2008
Published online: January 27, 2009
Issue release date: March 2009

Number of Print Pages: 11
Number of Figures: 0
Number of Tables: 6

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: http://www.karger.com/HHE

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