Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/88444
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Type: Journal article
Title: Association of genetic loci with sleep apnea in European Americans and African-Americans: the Candidate Gene Association resource (CARe)
Author: Patel, S.
Goodloe, R.
De, G.
Kowgier, M.
Weng, J.
Buxbaum, S.
Cade, B.
Fulop, T.
Gharib, S.
Gottlieb, D.
Hillman, D.
Larkin, E.
Lauderdale, D.
Li, L.
Mukherjee, S.
Palmer, L.
Zee, P.
Zhu, X.
Redline, S.
Citation: PLoS One, 2012; 7(11):e48836-1108-e48836-1117
Publisher: Public Library of Science
Issue Date: 2012
ISSN: 1932-6203
1932-6203
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Responsibility: 
Sanjay R. Patel, Robert Goodloe, Gourab De, Matthew Kowgier, Jia Weng, Sarah G. Buxbaum, Brian Cade, Tibor Fulop, Sina A. Gharib, Daniel J. Gottlieb, David Hillman, Emma K. Larkin, Diane S. Lauderdale, Li Li, Sutapa Mukherjee, Lyle Palmer, Phyllis Zee, Xiaofeng Zhu, Susan Redline
Abstract: Although obstructive sleep apnea (OSA) is known to have a strong familial basis, no genetic polymorphisms influencing apnea risk have been identified in cross-cohort analyses. We utilized the National Heart, Lung, and Blood Institute (NHLBI) Candidate Gene Association Resource (CARe) to identify sleep apnea susceptibility loci. Using a panel of 46,449 polymorphisms from roughly 2,100 candidate genes on a customized Illumina iSelect chip, we tested for association with the apnea hypopnea index (AHI) as well as moderate to severe OSA (AHI≥15) in 3,551 participants of the Cleveland Family Study and two cohorts participating in the Sleep Heart Health Study. Among 647 African-Americans, rs11126184 in the pleckstrin (PLEK) gene was associated with OSA while rs7030789 in the lysophosphatidic acid receptor 1 (LPAR1) gene was associated with AHI using a chip-wide significance threshold of p-value<2×10−6. Among 2,904 individuals of European ancestry, rs1409986 in the prostaglandin E2 receptor (PTGER3) gene was significantly associated with OSA. Consistency of effects between rs7030789 and rs1409986 in LPAR1 and PTGER3 and apnea phenotypes were observed in independent clinic-based cohorts. Novel genetic loci for apnea phenotypes were identified through the use of customized gene chips and meta-analyses of cohort data with replication in clinic-based samples. The identified SNPs all lie in genes associated with inflammation suggesting inflammation may play a role in OSA pathogenesis.
Keywords: Humans; Sleep Apnea, Obstructive; Genetic Predisposition to Disease; Polysomnography; Genotype; Phenotype; Polymorphism, Single Nucleotide; Alleles; Adult; Aged; Middle Aged; African Americans; European Continental Ancestry Group; Female; Male; Genetic Loci; Genetic Association Studies
Rights: This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC, public domain dedication.
RMID: 0020136603
DOI: 10.1371/journal.pone.0048836
Appears in Collections:Translational Health Science publications

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