Exonic Variants Associated with Development of Aspirin Exacerbated Respiratory Diseases
- Authors
- Shin, Seung-Woo; Park, Byung Lae; Chang, HunSoo; Park, Jong Sook; Bae, Da-Jeong; Song, Hyun-Ji; Choi, Inseon S.; Kim, Mi-Kyeong; Park, Hea-Sim; Kim, Lyoung Hyo; Namgoong, Suhg; Kim, Ji On; Shin, Hyoung Doo; Park, Choon-Sik
- Issue Date
- 5-Nov-2014
- Publisher
- Public Library of Science
- Keywords
- Exonic Variants Associated with Development of Aspirin Exacerbated Respiratory Diseases
- Citation
- PLoS ONE, v.9, no.11
- Journal Title
- PLoS ONE
- Volume
- 9
- Number
- 11
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/11702
- DOI
- 10.1371/journal.pone.0111887
- ISSN
- 1932-6203
- Abstract
- Aspirin-exacerbated respiratory disease (AERD) is one phenotype of asthma, often occurring in the form of a severe and sudden attack. Due to the time-consuming nature and difficulty of oral aspirin challenge (OAC) for AERD diagnosis, non-invasive biomarkers have been sought. The aim of this study was to identify AERD-associated exonic SNPs and examine the diagnostic potential of a combination of these candidate SNPs to predict AERD. DNA from 165 AERD patients, 397 subjects with aspirin-tolerant asthma (ATA), and 398 normal controls were subjected to an Exome BeadChip assay containing 240K SNPs. 1,023 models (2(10)-1) were generated from combinations of the top 10 SNPs, selected by the p-values in association with AERD. The area under the curve (AUC) of the receiver operating characteristic (ROC) curves was calculated for each model. SNP Function Portal and PolyPhen-2 were used to validate the functional significance of candidate SNPs. An exonic SNP, exm537513 in HLA-DPB1, showed the lowest p-value (p = 3.40x10(-8)) in its association with AERD risk. From the top 10 SNPs, a combination model of 7 SNPs (exm537513, exm83523, exm1884673, exm538564, exm2264237, exm396794, and exm791954) showed the best AUC of 0.75 (asymptotic p-value of 7.94x10(-21)), with 34% sensitivity and 93% specificity to discriminate AERD from ATA. Amino acid changes due to exm83523 in CHIA were predicted to be "probably damaging" to the structure and function of the protein, with a high score of '1'. A combination model of seven SNPs may provide a useful, non-invasive genetic marker combination for predicting AERD.
- Files in This Item
- There are no files associated with this item.
- Appears in
Collections - College of Medicine > Department of Internal Medicine > 1. Journal Articles
- College of Medicine > Soonchunhyang Institute of Medicine > 1. Journal Articles
![qrcode](https://api.qrserver.com/v1/create-qr-code/?size=55x55&data=https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/11702)
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.