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The SNP rs3128965 of HLA-DPB1 as a genetic marker of the AERD phenotype.

Authors
Kim, SH  | Cho, BY | Choi, H | Shin, ES | Ye, YM  | Lee, JE | Park, HS
Citation
PloS one, 9(12). : e111220-e111220, 2014
Journal Title
PloS one
ISSN
1932-6203
Abstract
BACKGROUND: Two common clinical syndromes of acetylsalicylic acid (aspirin)

hypersensitivity, aspirin-exacerbated respiratory disease (AERD) and

aspirin-exacerbated cutaneous disease (AECD), were subjected to a genome-wide

association study to identify strong genetic markers for aspirin hypersensitivity

in a Korean population. METHODS: A comparison of SNP genotype frequencies on an

Affymetrix Genome-Wide Human SNP array of 179 AERD patients and 1989 healthy

normal control subjects (NC) revealed SNPs on chromosome 6 that were associated

with AERD, but not AECD. To validate the association, we enrolled a second cohort

comprising AERD (n = 264), NC (n = 238) and disease-control (aspirin tolerant

asthma; ATA, n = 387) groups. RESULTS: The minor genotype frequency (AG or AA) of

a particular SNP, rs3128965, in the HLA-DPB1 region was higher in the AERD group

compared to the ATA or NC group (P = 0.001, P = 0.002, in a co-dominant analysis

model, respectively). Comparison of rs3128965 alleles with the clinical features

of asthmatics revealed that patients harboring the A allele had increased

bronchial hyperresponsiveness to inhaled aspirin and methacholine, and higher

15-HETE levels, than those without the A allele (P = 0.039, 0.037, and 0.004,

respectively). CONCLUSIONS: This implies the potential of rs3128965 as a genetic

marker for diagnosis and prediction of the AERD phenotype.
MeSH

DOI
10.1371/journal.pone.0111220
PMID
25536158
Appears in Collections:
Journal Papers > Hospital > Clinical Trial Center
Journal Papers > School of Medicine / Graduate School of Medicine > Allergy
Ajou Authors
김, 승현  |  박, 해심  |  예, 영민
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