Item Details

title

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

author

Bonomo, Jason A.

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

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

type

Dissertation