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

作者：Pasaje Charisse Flerida A; Kim Jeong Hyun; Park Byung Lae; Cheong Hyun Sub; Chun Ji Yong; Park Tae Joon; Lee Jin Sol; Kim Yongha; Bae Joon Seol; Park Jong Sook; Yoon Sang Hyuk; Uh Soo Taek; Choi Jae Sung; Kim Yong Hoon; Kim Mi Kyeong; Choi Inseon S; Cho Sang Heon; Choi Byoung Whui; Park Choon Sik; Shin Hyoung Doo^*

来源：Annals of Human Genetics, 2010, 74(4): 326-334.

DOI：10.1111/j.1469-1809.2010.00584.x

• Aspirin-intolerant asthma
• SLC6A12
• polymorphism
• haplotype

P>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.

• 出版日期2010-7
• 单位河北医科大学