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CFA Pasaje,1,* JS Bae,1,*
B-L Park,2 HS Cheong,2 A-S Jang,3
S-T Uh,4 M-K Kim,5 J-H Kim,1
T-J Park,1 J-S Lee,1 Y Kim,1
C-S Park,4 HD Shin1,2 |
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1Department of Life Science, Sogang
University, Seoul, Republic of Korea
2Department of Genetic Epidemiology, SNP Genetics, Inc.,
Seoul, Republic of Korea
3Division of Allergy and Respiratory Medicine,
Soonchunhyang University Seoul Hospital, Seoul, Republic
of Korea
4Genome Research Center for Allergy and Respiratory
Diseases, Division of Allergy and Respiratory Medicine,
Soonchunhyang University Bucheon Hospital, Bucheon,
Republic of Korea
5Department of Internal Medicine, Chungbuk National
University, College of Medicine, Cheongju, Republic of
Korea
*Both authors contributed equally to the manuscript |
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Abstract |
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Background:
The etiology of
aspirin-exacerbated
respiratory disease
(AERD) has been
attributed to the
combination of
environmental and
genetic risk
factors. Although
widely investigated
in various diseases
associated with
immune dysfunction,
the human zinc
ribbon domain
containing 1 (ZNRD1)
gene is thought to
play a role in the
pathogenesis of AERD
by altering the
mechanisms involved
in disease
development.
Methods: We
selected 6
single-nucleotide
polymorphisms (SNPs)
for genotyping from
the International
HapMap database in
order to analyze the
association between
polymorphisms in
ZNRD1 and AERD in a
Korean asthma
cohort. Genotyping
was carried out
using the TaqMan
assay, and
differences in
genotype frequency
distributions were
analyzed using
logistic regression
models.
Results:
Nominal associations
were found between
ZNRD1 rs1150740 and
risk of AERD via
codominant and
dominant genetic
inheritance (P=.03;
odds ratio, 1.14
[1.14-10.16]). The
same polymorphism
was found to be
significantly
associated with a
decrease in forced
expiratory volume in
the first second of
expiration, an
important diagnostic
marker of AERD, even
after multiple
testing corrections
(P=.006, Pcorr=.03
in codominant and
dominant models).
Conclusions:
These preliminary fi
ndings suggest a
possible
relationship between
ZNRD1 and
aspirin-induced
respiratory
dysfunctions in a
Korean population
and provide
essential
information on the
etiology of AERD.
Key words:
Aspirin exacerbated
respiratory disease.
FEV1. Haplotype.
Single-nucleotide
polymorphism. ZNRD1.
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