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A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans.
Title: | A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans. |
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Authors: | Sarah A Pendergrass, Steven Buyske, Janina M Jeff, Alex Frase, Scott Dudek, Yuki Bradford, Jose-Luis Ambite, Christy L Avery, Petra Buzkova, Ewa Deelman, Megan D Fesinmeyer, Christopher Haiman, Gerardo Heiss, Lucia A Hindorff, Chun-Nan Hsu, Rebecca D Jackson, Yi Lin, Loic Le Marchand, Tara C Matise, Kristine R Monroe, Larry Moreland, Kari E North, Sungshim L Park, Alex Reiner, Robert Wallace, Lynne R Wilkens, Charles Kooperberg, Marylyn D Ritchie, Dana C Crawford |
Source: | PLoS ONE, Vol 14, Iss 12, p e0226771 (2019) |
Publisher Information: | Public Library of Science (PLoS), 2019. |
Publication Year: | 2019 |
Collection: | LCC:Medicine LCC:Science |
Subject Terms: | Medicine, Science |
More Details: | We performed a hypothesis-generating phenome-wide association study (PheWAS) to identify and characterize cross-phenotype associations, where one SNP is associated with two or more phenotypes, between thousands of genetic variants assayed on the Metabochip and hundreds of phenotypes in 5,897 African Americans as part of the Population Architecture using Genomics and Epidemiology (PAGE) I study. The PAGE I study was a National Human Genome Research Institute-funded collaboration of four study sites accessing diverse epidemiologic studies genotyped on the Metabochip, a custom genotyping chip that has dense coverage of regions in the genome previously associated with cardio-metabolic traits and outcomes in mostly European-descent populations. Here we focus on identifying novel phenome-genome relationships, where SNPs are associated with more than one phenotype. To do this, we performed a PheWAS, testing each SNP on the Metabochip for an association with up to 273 phenotypes in the participating PAGE I study sites. We identified 133 putative pleiotropic variants, defined as SNPs associated at an empirically derived p-value threshold of p |
Document Type: | article |
File Description: | electronic resource |
Language: | English |
ISSN: | 1932-6203 |
Relation: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0226771&type=printable; https://doaj.org/toc/1932-6203 |
DOI: | 10.1371/journal.pone.0226771&type=printable |
DOI: | 10.1371/journal.pone.0226771 |
Access URL: | https://doaj.org/article/d1011295931b4e4fb3037f3c735bbbb4 |
Accession Number: | edsdoj.1011295931b4e4fb3037f3c735bbbb4 |
Database: | Directory of Open Access Journals |
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ISSN: | 19326203 |
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DOI: | 10.1371/journal.pone.0226771&type=printable |
Published in: | PLoS ONE |
Language: | English |