title: Development of a genetic marker set to diagnose aspirin-exacerbated respiratory disease in a genome-wide association study.
abstract: We developed a genetic marker set of single nucleotide polymorphisms (SNPs) by summing risk scores of 14 SNPs showing a significant association with aspirin-exacerbated respiratory disease (AERD) from our previous 660 W genome-wide association data. The summed scores were higher in the AERD than in the aspirin-tolerant asthma (ATA) group (P=8.58 × 10(-37)), and were correlated with the percent decrease in forced expiratory volume in 1 s after aspirin challenge (r(2)=0.150, P=5.84 × 10(-30)). The area under the curve of the scores for AERD in the receiver operating characteristic curve was 0.821. The best cutoff value of the summed risk scores was 1.01328 (P=1.38 × 10(-32)). The sensitivity and specificity of the best scores were 64.7% and 85.0%, respectively, with 42.1% positive and 93.4% negative predictive values. The summed risk score may be used as a genetic marker with good discriminative power for distinguishing AERD from ATA.
authors.affiliation: Department of Medical Bioscience, Graduate School, Soonchunhyang University, Asan, Republic of Korea.
authors.forename: H S
authors.initials: HS
authors.lastname: Chang
authors.affiliation: Asthma Genome Research Center, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea.
authors.forename: S W
authors.initials: SW
authors.lastname: Shin
authors.affiliation: Department of Medical Bioscience, Graduate School, Soonchunhyang University, Asan, Republic of Korea.
authors.forename: T H
authors.initials: TH
authors.lastname: Lee
authors.affiliation: Department of Medical Bioscience, Graduate School, Soonchunhyang University, Asan, Republic of Korea.
authors.forename: D J
authors.initials: DJ
authors.lastname: Bae
authors.affiliation: 1] Asthma Genome Research Center, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea [2] Division of Allergy and Respiratory Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea.
authors.forename: J S
authors.initials: JS
authors.lastname: Park
authors.affiliation: Division of Allergy and Respiratory Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Republic of Korea.
authors.forename: Y H
authors.initials: YH
authors.lastname: Kim
authors.affiliation: Division of Allergy and Respiratory Medicine, Soonchunhyang University Seoul Hospital, Seoul, Republic of Korea.
authors.forename: S T
authors.initials: ST
authors.lastname: Uh
authors.affiliation: Department of Internal Medicine, Chung-Ang University Yongsan Hospital, Seoul, Republic of Korea.
authors.forename: B W
authors.initials: BW
authors.lastname: Choi
authors.affiliation: Division of Internal Medicine, Chungbuk National University, Cheongju, Republic of Korea.
authors.forename: M K
authors.initials: MK
authors.lastname: Kim
authors.affiliation: Department of Allergy, Chonnam National University, Gwangju, Republic of Korea.
authors.forename: I S
authors.initials: IS
authors.lastname: Choi
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics Incorporation, Seoul, Republic of Korea.
authors.forename: B L
authors.initials: BL
authors.lastname: Park
authors.affiliation: 1] Department of Genetic Epidemiology, SNP Genetics Incorporation, Seoul, Republic of Korea [2] Department of Life Science, Sogang University, Seoul, Republic of Korea.
authors.forename: H D
authors.initials: HD
authors.lastname: Shin
authors.affiliation: 1] Asthma Genome Research Center, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea [2] Division of Allergy and Respiratory Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea.
authors.forename: C S
authors.initials: CS
authors.lastname: Park
mesh_terms: D000328:Adult; D000368:Aged; D000465:Algorithms; D019540:Area Under Curve; D055963:Asthma, Aspirin-Induced / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005541:Forced Expiratory Volume; D005819:Genetic Markers / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011237:Predictive Value of Tests; D012372:ROC Curve; D012129:Respiratory Function Tests; D018570:Risk Assessment; D012680:Sensitivity and Specificity
chemical_list: D005819:Genetic Markers