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ASSORTATIVE MATING AS A STRATIFICATION PROBLEM IN GENETIC ASSOCIATION STUDIES

Quaynor, Solomon Tetteh (2007) ASSORTATIVE MATING AS A STRATIFICATION PROBLEM IN GENETIC ASSOCIATION STUDIES. Master's Thesis, University of Pittsburgh. (Unpublished)

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Abstract

Genetic association studies have an important role in public health because they help us understand the biological basis of conditions (e.g. diabetes, obesity) that have important public health implications. They can help us develop and direct both treatments and prevention activities. As both Type II diabetes and obesity tend to run in families, it is reasonable to want to ascertain whether a genetic association or linkage exists between a particular allele or alleles and these conditions. Genetic association studies are, generally, the preferred method for detecting genes that are causal variants of complex diseases like diabetes because they have greater power to detect alleles that are susceptible to disease. However, the Case control genetic association studies are known to be prone to false positive associations in the presence of population stratification. We hypothesize that assortative mating in a given population can lead to a form of population stratification and subsequently false positives. We hypothesize that assortative mating in a given population can lead to a form of population stratification and subsequently false positives. We also investigate the role of gene-gene interactions in the presence of assortative mating in producing spurious results. These hypotheses are tested via studies on 10,000 simulated individuals. Our results show that assortative mating does lead to a greater than expected number of false positives as compared to a situation where there is no assortative mating. Our tests on the role of gene-gene interactions also suggest that they contribute to false positives in the presence of assortative mating.


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Details

Item Type: University of Pittsburgh ETD
Status: Unpublished
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Quaynor, Solomon Tettehsolomon.quaynor@gmail.com
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairFeingold, Eleanoreleanor.feingold@hgen.pitt.eduFEINGOLD
Committee MemberYouk, Ada Oayouk@pitt.eduAYOUK
Committee MemberKammerer, Candace Mckammerer@hgen.pitt.eduCMK3
Date: 28 June 2007
Date Type: Completion
Defense Date: 30 March 2007
Approval Date: 28 June 2007
Submission Date: 13 April 2007
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Institution: University of Pittsburgh
Schools and Programs: Graduate School of Public Health > Biostatistics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: assortative mating; gene-gene interaction; genetic association; population stratification
Other ID: http://etd.library.pitt.edu/ETD/available/etd-04132007-224401/, etd-04132007-224401
Date Deposited: 10 Nov 2011 19:37
Last Modified: 15 Nov 2016 13:40
URI: http://d-scholarship.pitt.edu/id/eprint/7118

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