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Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project[S]

Overview of attention for article published in Journal of Lipid Research, April 2014
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Title
Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project[S]
Published in
Journal of Lipid Research, April 2014
DOI 10.1194/jlr.p049247
Pubmed ID
Authors

Daniel Seung Kim, David R. Crosslin, Paul L. Auer, Stephanie M. Suzuki, Judit Marsillach, Amber A. Burt, Adam S. Gordon, James F. Meschia, Mike A. Nalls, Bradford B. Worrall, W.T. Longstreth, Rebecca F. Gottesman, Clement E. Furlong, Ulrike Peters, Stephen S. Rich, Deborah A. Nickerson, Gail P. Jarvik

Abstract

HDL-associated paraoxonase-1 (PON1) is an enzyme whose activity is associated with cerebrovascular disease. Common PON1 genetic variants have not been consistently associated with cerebrovascular disease. Rare coding variation that likely alters PON1 enzyme function may be more strongly associated with stroke. The National Heart, Lung, and Blood Institute Exome Sequencing Project sequenced the coding regions (exomes) of the genome for heart, lung, and blood-related phenotypes (including ischemic stroke). In this sample of 4,204 unrelated participants, 496 had verified, noncardioembolic ischemic stroke. After filtering, 28 nonsynonymous PON1 variants were identified. Analysis with the sequence kernel association test, adjusted for covariates, identified significant associations between PON1 variants and ischemic stroke (P = 3.01 × 10(-3)). Stratified analyses demonstrated a stronger association of PON1 variants with ischemic stroke in African ancestry (AA) participants (P = 5.03 × 10(-3)). Ethnic differences in the association between PON1 variants with stroke could be due to the effects of PON1Val109Ile (overall P = 7.88 × 10(-3); AA P = 6.52 × 10(-4)), found at higher frequency in AA participants (1.16% vs. 0.02%) and whose protein is less stable than the common allele. In summary, rare genetic variation in PON1 was associated with ischemic stroke, with stronger associations identified in those of AA. Increased focus on PON1 enzyme function and its role in cerebrovascular disease is warranted.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 3%
Unknown 30 97%

Demographic breakdown

Readers by professional status Count As %
Professor > Associate Professor 5 16%
Student > Ph. D. Student 5 16%
Student > Bachelor 4 13%
Researcher 3 10%
Professor 2 6%
Other 4 13%
Unknown 8 26%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 8 26%
Medicine and Dentistry 6 19%
Agricultural and Biological Sciences 3 10%
Sports and Recreations 1 3%
Nursing and Health Professions 1 3%
Other 2 6%
Unknown 10 32%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 June 2019.
All research outputs
#20,653,708
of 25,371,288 outputs
Outputs from Journal of Lipid Research
#4,421
of 4,808 outputs
Outputs of similar age
#177,730
of 241,185 outputs
Outputs of similar age from Journal of Lipid Research
#36
of 43 outputs
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