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The association between common genetic variation in STK11 (LKB1) and colorectal adenomas in the Health Professional's Follow-up Study and the Nurses' Health Study
(2013-07-25)
Germline mutations in serine-threonine kinase 11 (<ITALIC>STK11</ITALIC>) are hallmarks in hamartomatous polyps of the rare, hereditary disease, Peutz-Jeghers syndrome (PJS). PJS is associated with colorectal hamartomatous polyps and results in an increased risk of colorectal cancer and other malignancies. However, whether ...
Pleiotropy: Epidemiologic analyses and implications for return of results
(2013-07-23)
Pleiotropy refers to a single gene with multiple phenotypic effects. Genetic variants associated with multiple diseases can point to shared biologic mechanisms or other similarities. The first half of this dissertation comprises two epidemiologic analyses evaluating common genetic variants for pleiotropic associations. The ...
Employing Allostasis to Further Transdisciplinary Research
(2013-04-17)
The intersection of biological and social science research is illuminating the causal relationships between societal stressors and chronic disease. The intersection of external pressures and internal responses provides a research opportunity for transdisciplinary investigation into complex research questions aimed at employing ...
Return of Aggregate Results in Biorepository Research: An Exploratory Study of Participant Perspectives and Preferences
(2013-04-17)
This thesis reports a preliminary exploration of participant preferences and perspectives on the necessity for, and mode of, returning aggregate (or summary) results of genomic biorepository research. Fifteen semi-structured interviews were conducted with members of the Northwest Institute of Genetic Medicine (NWIGM) cohort. ...
Validation of single nucleotide polymorphisms associated with acute kidney injury in bone marrow transplant recipients
(2013-07-25)
Validation of single nucleotide polymorphisms associated with acute kidney injury in bone marrow transplant recipients Laurel K. Willig Timothy Thornton Background: Rates of acute kidney injury (AKI) as high as 75% have been reported in hematopoietic stem cell transplant (HSCT) patients. Previous studies have identified ...
From Bench to Bedside: Understanding Multiple Dimensions of Pediatric HIV in Kenya
(2013-07-25)
Introduction: Globally, over 3.3 million children are infected with HIV. Despite significant progress, there is a need to better understand mechanisms for transmission and progression of HIV in children. In addition, among children receiving HIV care, it is important to determine the best ways to inform them about their ...
FcγRIIa and FcγRIIIa genetic polymorphisms and HIV-1 disease progression in Kenyan female sex workers
(2013-07-25)
This study explores a potential correlation between genetic polymorphisms of the Fc gamma receptors IIa and IIIa and the rate of disease progression in HIV-infected female sex workers (FSW) from Kenya. Longitudinal data is used from a prospective cohort following HIV-1 seroconverters, with the end-points of progression to ...