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Genetic Influence on Metabolic Health after Chronic Dietary PFAS Exposure

Determining how genetic makeup impacts PFAS exposure across endocrine systems

Full Project Name:Genetic Influence on Metabolic Health after Chronic Dietary PFAS ExposurePrincipal Investigator:Anne E Kwitek, PhD, PhysiologyCo-Investigator:Melinda R Dwinell, PhD, PhysiologyAward Amount:$50,000
Award Date
January2024
Project Duration:12 months

Project Description Narrative:


The past decades have experienced an unprecedented increase in obesity, hypertension, and diabetes which are all major risk factors for heart disease, stroke, kidney disease, and other common health problems. The metabolic syndrome (MetS) is a group of conditions including central obesity, high blood pressure, dyslipidemia, and hyperglycemia. Obesity alone affects nearly 34% of adults in Wisconsin, and Black adults in Wisconsin have the highest obesity prevalence (51.8%) in the US.

While it is known MetS is a complex disease (i.e., caused by genetic risk interacting with environmental factors), its etiology remains unclear. Lifestyle choices are obvious environmental factors targeted to reduce MetS, but demographics and exposures to common environmental chemicals, endocrine-disrupting chemicals (EDCs) in particular, also pose a substantial but understudied risk for MetS. This project addresses a major gap in knowledge—how genetic risk determines MetS risk from EDC exposure through gene x environment (GxE) interactions. Per- and polyfluoroalkyl substances (PFAS) are manmade EDCs that are persistent “forever chemicals.” PFAS can be found in fire-fighting foam, water-resistant clothing, non-stick cookware, and fast-food packaging, to name a few. PFAS in groundwater was detected across many places in Wisconsin, from urban communities like Madison, Milwaukee, and the Fox River Valley, to rural communities such as Rhinelander and Peshtigo. The major route of PFAS exposure is through oral ingestion. In humans, PFAS has been associated with increased cholesterol, thyroid disease, low birth weight, hypertension, preeclampsia, and risk of certain cancers; thus, PFAS increases the risk of several features of MetS. Because of the growing health concerns surrounding PFAS, in 2021 the EPA released the PFAS Strategic Roadmap which is a multi-faceted approach to address public health and safeguard communities from contamination.

This study will lead to novel consideration of genetic predisposition as a risk factor for harmful outcomes of PFAS exposure.

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