Genetic Epidemiology Research

Genetic Epidemiology is the study of genetic factors that independently or in combination with environmental factors influences the risk of disease. Genetic epidemiology uses a variety of study designs including family and population approaches to investigate disease risk. Departmental faculty use the methods of genetic epidemiology to investigate genetic susceptibility and gene-environment interaction in relation to cancer, cardiovascular disease, reproductive and pediatric disease, and other health conditions.

Affiliated genetic epidemiology faculty are involved in a number of diverse research projects, a number of which are listed below. Other genetic and molecular epidemiology projects can be found in faculty and program research profiles.

Analytic laboratory for development of biomarkers of environmental exposure to arsenic. The main goal of this project is to establish in UNC-SPH an innovative analytical laboratory that will support development of new biomarkers of susceptibility to adverse effects of chronic exposures to iAs. The project includes two pilot studies that will examine As species in cells collected from humans exposed to As. (Ethan Lange)

Carolina Breast Cancer Study. A population-based case-control study of breast cancer in African Americans and whites in North Carolina. Primary goal is to investigate a polygenic model for breast cancer susceptibility; gene-environment interaction. (Jeannette Bensen, Robert Millikan)

Comprehensive Mapping of a Blood Pressure QTL on Chromosome 17. This proposal aims to identify gene variants in chromosome 17 associated with blood pressure variation and susceptibility to hypertension, by following-up persuasive linkage findings of blood pressure in American Indian participants of the Strong Heart Family. Study (Nora Franceschini, Kari North)

Dietary Fiber, Gut Microflora, & Epigenetic Events that Prevent Colorectal Cancer. The objective of this study is to investigate the mechanistic link between dietary fiber, gut microflora, butyrate, and epigenetic modifications which result in gene expression changes that alter cancer susceptibility. (Ethan Lange)

Environmental arsenic and diabetes mellitus. This project examines relationship between diabetes mellitus and exposure to inorganic arsenic from drinking water. (Ethan Lange)

Gene-Environment Interactions and Weight Gain. To examine gene-by-environment interactions on trajectories of weight gain from adolescence to young adulthood. (Kari North, Ethan Lange)

Genetic Epidemiology of Metabolic Diseases of Obesity. The overall goal of this proposal is to investigate the genetic epidemiology of non-alcoholic fatty liver disease, abdominal fat, and the relationship of these phenotypes to other components of metabolic syndrome. (Kari North)

Genes Environment and Melanoma Study. P16, DNA repair genes, MC1R and interactions with sunlight exposure. (Robert Millikan)

Genetic Epidemiology of Casual Variants Across the Life Course. The goal of this consortium of studies is to genotype well-replicated putative casual variants in well characterized population-based studies to examine their prevalence, associations, modifiers and potential impact in population groups most relevant to the U.S. (Nora Franceschini, Kari North)

Gene Modifiers in CF Liver Disease. The purpose of this grant is to investigate for genetic modifiers that influence severity of cystic fibrosis (CF) among CF patients carrying mutations in the CF gene. (Ethan Lange)

Genome-Wide Association for Loci Influencing CVD and Other Heart, Lung and Blood Phenotypes. The aim of this study is to detect, map, and identify polymorphic genes that influence variation in CVD related phenotypes in participants of the Atherosclerosis Risk in Communities Study. (Kari North)

Genome Wide Association Study of Breast Cancer in African Americans. Comprehensive search for susceptibility genes. (Robert Millikan)

Health Care Access and Prostate Cancer Treatment in North Carolina: HCaP-NC. This four-year prospective follow-up study of North Carolina PCaP participants aims to investigate the role of health insurance and access to care in racial differences in prostate cancer treatment and quality of life. (Jeannette Bensen)

Hispanic Community Health Study. The objectives of this study are to identify the prevalence of and risk factors for diseases, disorders, and conditions in Hispanic populations and to determine the role of acculturation and disparities in the prevalence and development of these conditions. (Kari North)

HyperGEN. Multicenter collaboration to identify genes influencing blood pressure levels, hypertension and its cardiovascular complications. (Kari North, Nora Franceschini)

Innovative Analysis of Blood Pressure Variation in Gene-Environment Context. The objective of this study is to identify loci and genes that influence blood pressure variation across multiple population (Strong Heart Family Study, HyperGEN, ARIC) (Nora Franceschini)

North Carolina Center for Birth Defects Research and Prevention. This project conducts birth defects ascertainment in North Carolina, in collaboration with a national birth defects case-control study. The primary goal is to initiate studies of birth defects etiology and prevention in a cohort of case and control parent-child trios with a focus on investigating environmental exposures and genetic factors contributing to birth defects susceptibility. (Jeannette Bensen)

Prostate Cancer Susceptibility: The ICPCG Study. This is a collaborative study of prostate cancer genetics. (Ethan Lange)

QTL mapping for genes regulating apoptosis capacity. To determine if genetic variations in apoptosis-related genes influence individuals’ apoptosis capacity and susceptibility to prostate cancer and other types of cancer. (Ethan Lange)

Racial Differences in Prostate Cancer: Influence of Health Care and Host and Tumor Biology (PCaP). The major goals of this Consortium(PCaP) are to identify factors (including health care, diet, genetic, tumor biology) that influence the health disparity observed in prostate cancer mortality between African Americans and European Americans as well as to create an invaluable resource of clinical and epidemiologic data and biologic specimens that will be available for future studies. (Jeannette Bensen)

Strong Heart Family Study. The goal of this study is to detect, map, and identify polymorphic genes that influence variation in risk factors for cardiovascular disease and other related disorders that are major health problems in American Indians. (Nora Franceschini, Kari North)

UNC Health Registry. A multi-component initiative to facilitate study of factors that affect the growing population of cancer survivors, known as the UNC Health Registry and Cancer Survivorship Cohort. This study will integrate, through a comprehensive database, clinical, epidemiological and interview data with repositories of biologic specimens and tumor tissue to provide a unique and extraordinarily rich cancer research resource. (Jeannette Bensen)

Women’s’ Health Initiative SHARE GWAS Analysis Center. The goal of this project is to identify putative variants for high-priority heart, lung, and blood phenotypes among post-menopausal minority women. (Kari North)