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Your Environment. Your Health.

Human Studies

Biostatistics & Computational Biology Branch

The following investigators are involved in the Human Studies projects listed below: Grace Kissling, Min Shi, David Umbach, Clarice Weinberg, and Shanshan Zhao.

Examples of ongoing projects include:

Environmental Polymorphisms Registry (EPR): The EPR study investigates environmental effects on human health through the collection of extensive exposome data, genotyping, and health outcomes. Three surveys were administered to collect information concerning endogenous and exogeneous exposure agents at home and work, and health and medical history. Residential history data allows for the estimation of exposures to air pollution, groundwater contamination, and proximity to sites such as animal farming operations. Recently, whole-genome sequencing has been completed, allowing for the important investigation of the interaction between genes and the environment.

Pharmacogenomics in the Action to Control Cardiovascular Risk in Diabetes (ACCORD): The landmark ACCORD trial compared the benefits and risks of treatment strategies for intensively targeting hyperglycemia, hypertension, and dyslipidemia versus strategies with standard targets in individuals with Type 2 Diabetes (T2D) at high risk for cardiovascular disease (CV). The supposition of the ACCORD trial was that intensive treatment to normalize glycemia, dyslipidemia, and hypertension in diabetic patients would result in reduced risk of CV events compared to standard treatment approaches, with hopes to achieve risk levels for CV events equivalent to those seen in non-diabetic individuals. Despite the excellent rationale behind this hypothesis, the ACCORD interventions failed to reduce the primary CV outcome rate (time to the first event of nonfatal myocardial infarction, nonfatal stroke, and cardiovascular death). In addition, intensive management of blood pressure and lipids also had no significant effect on the primary endpoint compared to standard management regimens. Our overarching hypothesis is that inter-individual variation in drug response is partly responsible for the failure to achieve the ACCORD study's goals, with genetic variation as an important cause of such variation.  We perform genome-wide association mapping of drug response, for a number of medications used in ACCORD. This includes fibrates, metformin, sulfonylurea, and others. The goal of our pharmacogenomics studies is to find potential biomarkers of drug response and/or better understand the etiology of response.

Two Sister Study: Funding secured through Susan G. Komen for the Cure made it possible to carry out a family-based study of young-onset breast cancer (PI, Weinberg) built on the cohort recruited for the Sister Study (PI, Sandler, EB). This study includes a woman who had been diagnosed with breast cancer under age 50 and her control sister who was participating in the Sister Study cohort. Available parents provided DNA samples through mail-back saliva collection kits, and genotyping enabled a genome-wide assessment of genetic variants related to the risk of young-onset breast cancer. We will also be seeking to identify composite factors that promote healthy survival following treatment. Statistical methods developed in the branch enabled a robust analysis that allows estimation of exposure effects and multiplicative gene-by-environment interaction effects. More than 1500 families were enrolled.

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