Linkage, association, and haplotype analysis: A spectrum of approaches to elucidate the genetic influences of complex human traits

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  • March 21, 2019
Creator
  • Webb, Amy Elizabeth
    • Affiliation: School of Medicine, UNC/NCSU Joint Department of Biomedical Engineering
Abstract
  • The goal of human genetics is to identify genetic variants that influence a certain trait with the intent to provide a better understanding of the biology behind that trait. As technologies and statistical methods towards this goal have developed, there has been a change in the approaches to identify trait-causing variants. The three projects reported here cover a range of approaches. Early studies focused on family-based data, using linkage analysis to find regions of the genome shared by members with similar trait values. This approach was used to confirm the involvement of CYP2E1 with the level of response to alcohol in sibling pairs with an alcoholic parent. With the advent of high through-put genotyping panels, the field of human genetics has shifted to population-based association studies that seek to find variants that correlate with a trait. This approach was used to search for regions of the genome that infer risk for Pick's disease, a spectrum of heterogeneous dementia diseases, and to reproduce the association with MAPT, a gene with known disease-causing mutations. Haplotype based analysis approaches have emerged to improve the analysis of genomic data. A novel algorithm for haplotype based analysis was developed to identify long haplotypes shared in a population based on genotypes from genome-wide association data and was found to be very accurate when predicting haplotypes within the shared regions. Together, these three projects represent the past, present, and future of the study of human genetics.
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  • In Copyright
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  • " ... in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Department of Biomedical Engineering."
Advisor
  • Wilhelmsen, Kirk
Degree granting institution
  • University of North Carolina at Chapel Hill
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Place of publication
  • Chapel Hill, NC
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  • Open access
Date uploaded
  • March 18, 2013

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