A web-based initiative to accelerate research on genetics and disease in African Americans. K. E. Barnholt1, A. K. Kiefer1, H. L. Gates, Jr.2, M. Nelson1, M. Mullins1, E. Baker3, J. Frank1, C. D. Bustamante4, T. W. Love5, R. A. Kittles6, N. Eriksson1, J. L. Mountain1 1) 23andMe, Inc., Mountain View, CA; 2) W.E.B. Du Bois Institute for African and African American Studies, Harvard University, Cambridge, MA; 3) 23andYou.com; 4) Department of Genetics, Stanford University School of Medicine, Stanford, CA; 5) Onyx Pharmaceuticals, Inc., South San Francisco, CA; 6) College of Medicine, University of Illinois at Chicago, Chicago, IL.
Little is known about the connections between DNA and disease in African Americans, in part because most genetics research has involved only those of European ancestry. Greater understanding of such connections could improve diagnoses and lead to opportunities for more personalized health care. In 2011 23andMe, Inc., a personal genomics and research company, launched the Roots into the Future initiative, which aims to enroll 10,000 African Americans in an innovative research project. The study seeks to determine whether genetic associations previously identified in Europeans are relevant to African Americans and to discover other genetic markers linked to conditions of particular relevance to the African American community. Currently the 23andMe cohort includes nearly 10,000 African Americans, over 5700 of whom were recruited through the Roots into the Future initiative. Each of these individuals (58% female, 42% male; mean age: 44) has submitted a saliva sample for genotyping via 23andMes custom genotyping array, which includes approximately 1 million single nucleotide polymorphisms. Participants are currently contributing information about their health and traits through online surveys. To date over 6200 participants have completed an average of 10.6 surveys. Using the genetic data we estimated the percent African and European ancestry of each participant. Median estimates were 73% and 23% respectively (with 4% uncertain). As expected, the higher a persons proportion of European ancestry, the greater the chance that person carries variants that are more common among Europeans than among Africans, such as those linked to HIV-resistance and alpha-1 antitrypsin deficiency. Furthermore, the higher a persons proportion of African ancestry, the more likely that person reported having curly hair, high blood pressure and type 2 diabetes, and the less likely that person reported having facial wrinkles, rosacea and Parkinsons Disease. Based on data for over 8700 individuals likely to self-identify as African American, we replicated over 25 genetic associations reported previously for African Americans, including those for body-mass index, type 2 diabetes, lupus, height, and osteoporosis. For conditions for which we have already accrued at least 500 cases among this cohort, such as asthma, migraines, and uterine fibroids, we anticipate having power either to replicate associations identified through previous studies of Europeans or to find new associations.