News Brief
April 9, 2013

Alzheimer Gene ABCA7 Significantly Increases Late-Onset Risk Among African Americans

PHILADELPHIA — A variation in the gene ABCA7 causes a twofold increase in the risk of late onset Alzheimer disease among African Americans, according to a meta-analysis by a team of researchers including experts from the Perelman School of Medicine at the University of Pennsylvania. This is the largest analysis to date to determine genetic risk associated with late-onset Alzheimer disease (LOAD) specifically in African American individuals. The study appears in the April 10 issue of JAMA, a genomics theme issue.

The Alzheimer Disease Genetics Consortium (ADGC) – led by Gerard Schellenberg, PhD, professor of Pathology and Laboratory Medicine in the Perelman School of Medicine – compared genetic data from nearly 6,000 African Americans over 60 years of age, with and without Alzheimer disease. The researchers found that the genotypes with the strongest association with the risk of LOAD among African Americans were ABCA7 (odds ratio, 1.8) and APOE (odds ratio, 2.3), genotypes also associated with increased risk among individuals of European ancestry. The association with ABCA7 was 60 percent stronger among African Americans than it had been observed among individuals of European ancestry.

"While the genotypes are similar between groups, the strength of risk is significantly different," said Schellenberg. "ABCA7 was previously identified to be weakly involved in the risk of Alzheimer disease among non-hispanics of European ancestry. Among African Americans, however, the gene is associated with a much stronger risk of late-onset Alzheimer disease."

African Americans have a higher incidence of late-onset AD, which affects 1 percent of people at age 65 years to more than 30 percent of people older than 80 years. As much as 20 percent of the disease-attributable risk is related to the APOe4 gene variation.

Researchers note that, if the study can be validated and replicated in additional studies, these findings may have "major implications for developing targets for genetic testing, prevention, and treatment."

Richard Mayeux, MD, MSc, and Christine Reitz, MD, PhD, both from Columbia University Medical Center, led the study for the Alzheimer Disease Genetics Consortium. In addition to Dr. Schellenberg, collaborators from Penn's Department of Pathology and Laboratory Medicine include Li-San Wang, PhD; Otto Valladares, MS; Chiao-Feng Lin, PhD; and Laura B. Cantwell, MPH. The study was funded by numerous grants from the National Institute on Aging, within the National Institutes of Health. Additional information including a complete list of co-authors and funding sources is included in JAMA study.

Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $5.3 billion enterprise.

The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 18 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $373 million awarded in the 2015 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania and Penn Presbyterian Medical Center -- which are recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report -- Chester County Hospital; Lancaster General Health; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Chestnut Hill Hospital and Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2015, Penn Medicine provided $253.3 million to benefit our community.


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