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Transferability and Fine-Mapping of Genome-Wide Associated Loci for Adult Height across Human Populations

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dc.contributor.author Shriner, Daniel en_US
dc.contributor.author Adeyemo, Adebowale en_US
dc.contributor.author Gerry, Norman P. en_US
dc.contributor.author Herbert, Alan en_US
dc.contributor.author Chen, Guanjie en_US
dc.contributor.author Doumatey, Ayo en_US
dc.contributor.author Huang, Hanxia en_US
dc.contributor.author Zhou, Jie en_US
dc.contributor.author Christman, Michael F. en_US
dc.contributor.author Rotimi, Charles N. en_US
dc.date.accessioned 2012-01-11T22:27:20Z
dc.date.available 2012-01-11T22:27:20Z
dc.date.issued 2009-12-22 en_US
dc.identifier.citation Shriner, Daniel, Adebowale Adeyemo, Norman P. Gerry, Alan Herbert, Guanjie Chen, Ayo Doumatey, Hanxia Huang, Jie Zhou, Michael F. Christman, Charles N. Rotimi. "Transferability and Fine-Mapping of Genome-Wide Associated Loci for Adult Height across Human Populations" PLoS ONE 4(12): e8398. (2009) en_US
dc.identifier.issn 1932-6203 en_US
dc.identifier.uri http://hdl.handle.net/2144/3300
dc.description.abstract Human height is the prototypical polygenic quantitative trait. Recently, several genetic variants influencing adult height were identified, primarily in individuals of East Asian (Chinese Han or Korean) or European ancestry. Here, we examined 152 genetic variants representing 107 independent loci previously associated with adult height for transferability in a well-powered sample of 1,016 unrelated African Americans. When we tested just the reported variants originally identified as associated with adult height in individuals of East Asian or European ancestry, only 8.3% of these loci transferred (p-values=0.05 under an additive genetic model with directionally consistent effects) to our African American sample. However, when we comprehensively evaluated all HapMap variants in linkage disequilibrium (r2=0.3) with the reported variants, the transferability rate increased to 54.1%. The transferability rate was 70.8% for associations originally reported as genome-wide significant and 38.0% for associations originally reported as suggestive. An additional 23 loci were significantly associated but failed to transfer because of directionally inconsistent effects. Six loci were associated with adult height in all three groups. Using differences in linkage disequilibrium patterns between HapMap CEU or CHB reference data and our African American sample, we fine-mapped these six loci, improving both the localization and the annotation of these transferable associations. en_US
dc.description.sponsorship National Institutes of Health (S06GM008016-320107, S06GM008016-380111, 2M01RR010284, Z01HG200362); Center for Research on Genomics and Global Health (Intramural Research Program); National Human Genome Research Institute en_US
dc.language.iso en en_US
dc.publisher Public Library of Science en_US
dc.rights This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. en_US
dc.title Transferability and Fine-Mapping of Genome-Wide Associated Loci for Adult Height across Human Populations en_US
dc.type article en_US
dc.identifier.doi 10.1371/journal.pone.0008398 en_US
dc.identifier.pubmedid 20027299 en_US
dc.identifier.pmcid 2792725 en_US


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