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Association mapping of complex diseases in linked regions: estimation of genetic effects and feasibility of testing rare variants

Lookup NU author(s): Professor Heather Cordell

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Abstract

Association mapping in linked regions is a current major approach for the identification of genes for complex diseases. Loci contributing to linkage, even with small values of sibling recurrence risk (lambda(s)), may be equivalent to substantial underlying genetic effects for association studies. For disease alleles with a frequency as low as 1%, highly reliable association studies (80% power for significance level alpha=10(-6)) require only 277, 781, and 1289 families or cases and controls for loci detected with lambda(s) of 1.5, 1.1, and 1.05, respectively, under a multiplicative genetic model. Under alternative models, provided epistatic effects are minor, larger achievable sample sizes will provide sufficient power to map almost any disease gene that may have initially contributed to linkage.


Publication metadata

Author(s): Cordell HJ; Wang WY; Todd JA

Publication type: Article

Publication status: Published

Journal: Genetic Epidemiology

Year: 2003

Volume: 24

Issue: 1

Pages: 36-43

ISSN (print): 0741-0395

ISSN (electronic): 1098-2272

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/gepi.10216

DOI: 10.1002/gepi.10216

Notes: Journal Article Validation Studies


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