@article{49f055c583b84d43bff019148731a853,
title = "Evaluation of self-reported ethnicity in a case-control population: The stroke prevention in young women study",
abstract = "Background. Population-based association studies are used to identify common susceptibility variants for complex genetic traits. These studies are susceptible to confounding from unknown population substructure. Here we apply a model-based clustering approach to our case-control study of stroke among young women to examine if self-reported ethnicity can serve as a proxy for genetic ancestry. Findings. A population-based case-control study of stroke among women aged 15-49 identified 361 cases of first ischemic stroke and 401 age-comparable control subjects. Thirty single nucleotide polymorphisms (SNPs) throughout the genome unrelated to stroke risk and with established ancestry-based allele frequency differences were genotyped in all participants. The Structure program was used to iteratively evaluate for K = 1 to 5 potential genetic-based subpopulations. Evaluating the population as a whole, the Structure output plateaued at K = 2 clusters. 98% of self-reported Caucasians had an estimated probability 50% of belonging to Cluster 1, while 94% of self-reported African-Americans had an estimated probability 50% of belonging to Cluster 2. Stratifying the participants by self-reported ethnicity and repeating the analyses revealed the presence of two clusters among Caucasians, suggesting that potential substructure may exist. Conclusions. Among our combined sample of African-American and Caucasian participants there is no large unknown subpopulation and self-reported ethnicity can serve as a proxy for genetic ancestry. Ethnicity-specific analyses indicate that population substructure may exist among the Caucasian participants indicating that further studies are warranted.",
author = "Mez, {Jesse B.} and Cole, {John W.} and Howard, {Timothy D.} and MacClellan, {Leah R.} and Stine, {Oscar C.} and O'Connell, {Jeffery R.} and Wozniak, {Marcella A.} and Stern, {Barney J.} and Sorkin, {John D.} and Mitchell, {Braxton D.} and Kittner, {Steven J.}",
note = "Funding Information: Dr. Cole was supported in part by the Department of Veterans Affairs, Baltimore, Office of Research and Development, Medical Research Service; the Department of Veterans Affairs Stroke Research Enhancement Award Program; the University of Maryland General Clinical Research Center (Grant M01 RR 165001), General Clinical Research Centers Program, National Center for Research Resources, NIH, and; an American Heart Association Beginning Grant-in-Aid (Grant 0665352U). Dr. Kittner was supported in part by the Department of Veterans Affairs, Baltimore, Office of Research and Development, Medical Research Service, and Geriatrics Research, Education and Clinical Center, and Stroke Research Enhancement Award Program; a Cooperative Agreement with the Division of Adult and Community Health, Centers for Disease Control and Prevention; the National Institute of Neurological Disorders and Stroke and the NIH Office of Research on Women's Health; the National Institute on Aging Pepper Center (Grant P60 12583); and the University of Maryland General Clinical Research Center (Grant M01 RR 165001), General Clinical Research Centers Program, National Center for Research Resources, NIH. Dr. Sorkin was supported by the Baltimore VA Medical Center, Office of Research and Development, Medical Research Service, and Geriatrics Research, Education, and Clinical Center; the University of Maryland Claude D. Pepper Older Americans Independence Center; the Clinical Nutrition Research Unit of the University of Maryland, and; the Baltimore VA Medical Center, Center for Excellence in Robotics.",
year = "2009",
doi = "10.1186/1756-0500-2-260",
language = "English (US)",
volume = "2",
journal = "BMC Research Notes",
issn = "1756-0500",
publisher = "BioMed Central",
}