Association analysis of C6 genetic variations and aspirin hypersensitivity in Korean asthmatic patients

作者：Pasaje Charisse Flerida A; Bae Joon Seol; Park Byung Lae; Cheong Hyun Sub; Jang An Soo; Uh Soo Taek; Kim Mi Kyeong; Koh In Song; Kim Jeong Hyun; Park Tae Joon; Lee Jin Sol; Kim Yongha; Park Choon Sik; Shin Hyoung Doo^*

来源：Human Immunology, 2011, 72(10): 973-978.

DOI：10.1016/j.humimm.2011.05.022

• Aspirin-intolerant asthma
• C6
• Haplotype
• Single nucleotide polymorphism

There has been increasing evidence that genetic mechanisms contribute to the development of aspirin-intolerant asthma (ALA), a life-threatening disease. The complement component (C6) is a constituent of a biochemical cascade that has been implicated in airway epithelial damage and nasal polyposis, and therefore, may be a risk factor for AIA. To investigate the association between C6 variation! and ALA in a Korean asthma cohort, 27 SNPs were selected for genotyping based on previously reported polymorphisms in the HapMap database. Genotyping was carried out using TaqMan assay, and five major haplotypes were obtained in 163 AIA cases and 429 aspirin-tolerant asthma (ATA) controls subjects. Genotype frequency distributions of CO polymorphisms and haplotypes were analyzed using logistic and regression models. Subsequent analyses revealed a lack of association between C6 genetic variations and AIA. From the initial analyses, marginal associations of rs10512766 (p = 0.04 in co-dominant model) and rs4957374 (p = 0.05 in dominant model) with AIA did not reach the threshold of significance after multiple testing corrections; thus this study failed to find convincing evidence that variations in C6 gene influence the risk of AIA in a Korean population. However, these preliminary results may contribute to the etiology of aspirin hypersensitivity in Korean asthmatic patients.

• 出版日期2011-10