A possible association of EMID2 polymorphisms with aspirin hypersensitivity in asthma

作者：Pasaje Charisse Flerida A; Kim Jeong Hyun; Park Byung Lae; Cheong Hyun Sub; Kim Mi Kyeong; Choi Inseon S; Cho Sang Heon; Hong Chein Soo; Lee Yong Won; Lee Jae Young; Koh In Song; Park Tae Joon; Lee Jin Sol; Kim Yongha; Bae Joon Seol; Park Choon Sik; Shin Hyoung Doo^*

来源：Immunogenetics, 2011, 63(1): 13-21.

DOI：10.1007/s00251-010-0490-8

• Aspirin-intolerant asthma
• EMID2
• Polymorphism
• Haplotype

Aspirin-intolerant asthma (AIA) is an asthma phenotype characterized by the development of bronchoconstriction following ingestion of aspirin. Despite the well-defined pathological trigger, the underlying mechanisms of AIA are still unclear. With the biophysical characteristics of the human EMI domain-containing protein 2 (EMID2) gene in relation to the extracellular matrix deposition and epithelial-mesenchymal transition as pivotal characteristics of airway remodeling in asthma, we hypothesized that genetic polymorphisms of EMID2 might affect the development of AIA. In this study, the allelic associations of 49 single-nucleotide polymorphisms (SNPs) of the human EMID2 gene were evaluated from 163 AIA patients and 429 aspirin-tolerant asthma (ATA) subjects as controls in a Korean population. Logistic analysis showed that five SNPs (P = 0.01-0.04, but P (corr) > 0.05) and EMID2_BL2_ht2 haplotype (unique to the minor alleles of rs4727494 and rs13233066; P = 0.02; P (corr) = 0.02) were significantly associated with AIA. More interestingly, regression analysis of the decline of forced expiratory volume in one second (FEV(1)) by aspirin provocation revealed that 10 SNPs (P = 0.003-0.04) and four relevant haplotypes (P = 0.002-0.02) were significantly associated with the fall rate of FEV(1) by aspirin provocation, indicating that genetic polymorphisms of EMID2 could cause meaningful deficits in the upper and lower airways among AIA patients. These findings provide evidence that EMID2 may be a susceptible genetic factor for aspirin hypersensitivity among asthmatics in Korean population.

• 出版日期2011-1
• 单位河北医科大学