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Title page for ETD etd-11292012-074432

Type of Document Dissertation
Author Cummings, Anna Christine
URN etd-11292012-074432
Title Exploring the genetic architecture of late-onset Alzheimer disease in an Amish population
Degree PhD
Department Human Genetics
Advisory Committee
Advisor Name Title
Dana C. Crawford Committee Chair
Bingshan Li Committee Member
Jonathan L. Haines Committee Member
Michael G. Tramontana Committee Member
William K. Scott Committee Member
  • Amish
  • Alzheimer disease
  • genetics
Date of Defense 2012-08-21
Availability unrestricted
Late-onset Alzheimer disease (LOAD) is a complex neurodegenerative disorder with a strong genetic component. APOE is a well-established risk gene for LOAD, and several other genes have also been identified. However, at least half of the genetic component for LOAD remains unexplained. Genetic heterogeneity complicates identifying the remaining risk genes. To overcome this problem the objective of my thesis work was to study the Amish communities of Ohio and Indiana, a genetically isolated founder population to identify a novel LOAD risk gene(s). I first performed quality control procedures on a set of genome-wide single nucleotide polymorphisms (SNPs) genotyped in the Amish. I then performed genome-wide linkage and association analyses in the cleaned dataset. Lastly, I performed a candidate gene sequence analysis.
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