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Evaluation of Genetic Variants Influencing Susceptibility to Type 2 Diabetes Associated End-Stage Kidney Disease and Associated Phenotypes

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abstract
There is strong clinical and epidemiological evidence supporting a genetic link between type 2 diabetes associated end-stage kidney disease (T2D-ESKD) and African ancestry. Incidence and prevalence of T2D-ESKD, in addition to non-diabetic forms of ESKD, are markedly higher in African Americans compared to all other ethnicities even after adjustment for socioeconomic factors. Familial aggregation studies also support a strong genetic component to T2D-ESKD in African Americans. In this series of studies we examined this health care disparity from a genetics perspective by leveraging state-of-the-art genetic methodologies, including whole exome sequencing and bioinformatic tools, in an effort to further elucidate the genetic architecture of T2D-ESKD and non-T2D ESKD in several samples of African Americans, and to a lesser extent, in European Americans.
subject
diabetic nephropathy
end-stage kidney disease
end-stage renal disease
low-frequency coding variants
nephrin
RREB1
contributor
Bonomo, Jason A. (author)
Bowden, Donald W (committee chair)
Allred, Nichollete P (committee member)
Ng, Maggie CY (committee member)
Howard, Timothy D (committee member)
date
2014-07-10T08:35:42Z (accessioned)
2015-01-10T09:30:09Z (available)
2014 (issued)
degree
Molecular Medicine and Translational Science (discipline)
embargo
2015-1-10 (terms)
identifier
http://hdl.handle.net/10339/39326 (uri)
language
en (iso)
publisher
Wake Forest University
title
Evaluation of Genetic Variants Influencing Susceptibility to Type 2 Diabetes Associated End-Stage Kidney Disease and Associated Phenotypes
type
Dissertation

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