2006 – 2011
The Duke Pepper Center has a rich tradition of minority research that includes support of minority trainees and a broad depth of research yielding extensive publications of relevance.
Genetic Ascertainment of Large African American Family for Osteoarthritis and Early Onset Cardiovascular Disease.
Virginia Kraus, M.D., Ph.D., William Kraus, M.D., Project Leaders (Funding Years 2001-ongoing)
Drs. Virginia Byers Kraus and William E. Kraus, in collaboration with the Duke Pepper Center and the Duke Center for Human Genetics, have genetically ascertained one of the largest intact extended families in the United States. Particular emphasis was placed on evaluating this family (Family C) for osteoarthritis and early onset heart disease. This family celebrated a reunion in Durham, NC, July 24-28, 2002. A total of 500 adults participated from 35 states. This family traces its origin back to 1773 and consists of a mixture of ethnicities: primarily American Indian mixed with Anglo-Saxon and African-American. This is believed to represent one of the oldest intact extended families in the United States. Large family reunions have been held every two years since 1978 and every four years in North Carolina. A family genealogy has been published encompassing the years 1773 to approximately 1950. Of note, the author, approximately aged 86, is still living in North Carolina. We ascertained 239 members of this family at a Health Fair. We obtained health information, family history information along with laboratory data for use as quantitative traits including glucose and lipids. In addition, a physical exam was obtained which included body mass index, weight, height, calcaneal bone mineral density, hand exam for OA, blood pressure, eye exam for glaucoma and retinopathy, and a physical function measure on the over 65 age group. A pedigree has been constructed consisting of four generations. In addition to phenotyping and genetic ascertainment, we provided educational medical workshops on osteoporosis, osteoarthritis and cardiovascular disease. We are working to connect the four generations in the pedigree back to the original founders utilizing information provided in the Family C geneology and information provided by the family geneologist who has kept current records for the family. We now have these in hand. We plan to proceed with interviews of older family members remaining in North Carolina to try to fill in any pedigree gaps. We will also proceed with evaluating the pedigree for medical conditions that appear to run in the family. We will then proceed to apply for funding to support genetics research on this family.
Gene-environment Interactions in Aging, Functional Decline and Disease
Svati Shah, M.D., Project Leader (Funding Years 2007-2009)
The overall goal of this work is to study the interactions between aging, genetics and environment on the risk and development of (or protection from) complex diseases that commonly cause disability and loss of independence in older adults. The study of risk factors and heritability of key diseases in older adults directly relates and leads to functional decline. Furthermore, multiple disease pathologies and risk factors likely interact to produce disability and functional decline in older adults. Moreover, these interactions are not localized to old age alone, but occur throughout the life span, making the study of complex diseases in younger individuals (e.g., mid-life) as important as older individuals for advancing the understanding of how these diseases produce functional decline in late life.
For this pilot study, we will study metabolic risk factors for the complex diseases of cardiovascular disease (CVD) and osteoarthritis (OA). We have chosen to study CVD and OA risk for several reasons. First, CVD and OA are the two of the most common disabling conditions affecting older adults in the US. Second, aging is identified as a major risk element contributing to the development of each of these conditions. Third, ascertainment of samples from a large family structure four generations will provide a unique opportunity to study the interactive effects of aging, genetics and environment on the development of arguably the two most influential conditions affecting functional decline in the aging US population.
We have the extraordinary opportunity to address these issues through access to medical information, biomarker and genetic sampling in a large complex ethnically-diverse (primarily African and Native American) family. The family under study (Family C) is one of the oldest existing extended families in the United States and has a prevalence of disease that mirrors the rates in the general population, making it valuable for generalizing findings to the US population. This large multi-generational family resource will provide an innovative means to study the effects of aging, trait heritability, genetic and environmental factors, and interactions among these elements for common inherited conditions. There are three specific aims related to this project:
- Quantitative measurement of CVD and OA disease-related biomarkers in all sampled family members
- Quantitative assessment of the heritability of metabolic risk factors for CVD and OA biomarkers, and their interaction with aging in this family;
- Perform a genome-wide linkage analysis in this Family to map metabolic risk factors for CVD and OA susceptibility genes.
Demark-Wahnefried, Ph.D., RD. NIH Minority Supplement to “Promoting Health in Prostate & Breast Cancer Survivors 3 R01 CA81191-03S1 Project Period: 03/01/2001 – 12/31/2005
Kimberly Johnson, M.D., (mentor in survey research, Elizabeth Clipp, Ph.D., RN), Pepper Center Minority Supplement. End of Life Experiences among African-American Patients. 2002.