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Association of SLC6A12 variants with aspirin-intolerant asthma in a Korean population

Cited 22 time in Web of Science Cited 22 time in Scopus
Authors
Pasaje, Charisse Flerida A.; Kim, Jeong-Hyun; Park, Byung-Lae; Cheong, Hyun Sub; Park, Tae-Joon; Kim, Yongha; Park, Jong Sook; Uh, Soo-Taek; Kim, Yong-Hoon; Shin, Hyoung Doo; Park, Choon-Sik; Choi, Byoung Whui; Cho, Sang Heon; Choi, Inseon S.; Kim, Mi-Kyeong; Choi, Jae-Sung; Yoon, Sang-Hyuk; Bae, Joon Seol; Lee, Jin-Sol; Chun, Ji-Yong
Issue Date
2010-07
Publisher
WILEY-BLACKWELL
Citation
ANNALS OF HUMAN GENETICS; Vol.74 ; 326-334
Keywords
Aspirin-intolerant asthmapolymorphismSLC6A12haplotype
Abstract
Aspirin-intolerant asthma (AIA) occurs from asthma exacerbation after exposure to aspirin. However, the underlying mechanisms of AIA occurrence are still unclear. The critical role of the solute carrier family 6 (neurotransmitter transporter, betaine/GABA) member 12 (SLC6A12) gene in GABAergic transmission, which is associated with mucus production in asthma, makes it a candidate gene for AIA association study. Eight single nucleotide polymorphisms (SNPs) in SLC6A12 were genotyped in 163 aspirin-intolerant asthma (AIA) and 429 aspirin-tolerant asthma (ATA) patients of Korean ethnicity. Associations between polymorphisms of SLC6A12 and AIA were analysed using multivariate logistic analysis. Results showed that two polymorphisms and a haplotype in SLC6A12, rs499368 (P = 0.005; Pcorr = 0.03), rs557881 (non-synonymous C10R, P = 0.007; Pcorr = 0.04), and SLC6A12_BL1_ht1 (P = 0.009; Pcorr = 0.05) respectively, were significantly associated with AIA after multiple testing corrections. In addition, SNPs of SLC6A12 were significantly associated with the fall rate of FEV(1) by aspirin provocation suggesting that SLC6A12 could affect reversibility of lung function abnormalities in AIA patients. Although these results are preliminary and future replications are needed to confirm these findings, this study showed evidence of association between variants in SLC6A12 and AIA occurrence among asthmatics in a Korean population.
ISSN
0003-4800
Language
English
URI
http://hdl.handle.net/10371/76483
DOI
https://doi.org/10.1111/j.1469-1809.2010.00584.x
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College of Medicine/School of Medicine (의과대학/대학원)Internal Medicine (내과학전공)Journal Papers (저널논문_내과학전공)
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