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Association of SLC6A12 variants with aspirin‐intolerant asthma in a Korean population
Author(s) -
Pasaje Charisse Flerida A.,
Kim JeongHyun,
Park ByungLae,
Cheong Hyun Sub,
Chun JiYong,
Park TaeJoon,
Lee JinSol,
Kim Yongha,
Bae Joon Seol,
Park Jong Sook,
Yoon SangHyuk,
Uh SooTaek,
Choi JaeSung,
Kim YongHoon,
Kim MiKyeong,
Choi Inseon S.,
Cho Sang Heon,
Choi Byoung Whui,
Park ChoonSik,
Shin Hyoung Doo
Publication year - 2010
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.2010.00584.x
Subject(s) - asthma , aspirin , single nucleotide polymorphism , provocation test , medicine , population , haplotype , allele , genotype , biology , genetics , gene , pathology , alternative medicine , environmental health
Summary 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; P corr = 0.03), rs557881 (non‐synonymous C10R, P = 0.007; P corr = 0.04), and SLC6A12_BL1_ht1 ( P = 0.009; P corr = 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.