Leveraging expression quantitative trait loci to elucidate the genetic architecture of type 2 diabetes /

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Bibliographic Details
Author / Creator:Torres, Jason Matthew, author.
Ann Arbor : ProQuest Dissertations & Theses, 2016
Description:1 electronic resource (173 pages)
Format: E-Resource Dissertations
Local Note:School code: 0330
URL for this record:http://pi.lib.uchicago.edu/1001/cat/bib/10862924
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Other authors / contributors:University of Chicago. degree granting institution.
Notes:Advisors: Nancy J. Cox Committee members: Graeme Bell; Nancy J. Cox; Anna Di Rienzo; Louis Philipson.
This item is not available from ProQuest Dissertations & Theses.
Dissertation Abstracts International, Volume: 77-10(E), Section: B.
Summary:The enrichment of eQTLs mapped in insulin-responsive peripheral tissues among sets of T2D-associated variants suggests an important role for gene regulation in the genetic basis of T2D. In this body of work, I address outstanding questions about the overall contribution of regulatory variation to genetic susceptibility for T2D and the resolution of genes mapped as putative T2D genes. I employ heritability partitioning to determine the contribution of eQTLs mapped in human adipose tissue and skeletal muscle tissue to the proportion of T2D heritability attributable to common genetic variation. I then address the issue of gene mapping by predicting the genetic component of gene expression from eQTL data and sequentially test for association with T2D using a method that explicitly addresses the mechanism of transcription.