title: Association analysis of C6 genetic variations and aspirin hypersensitivity in Korean asthmatic patients.
abstract: There has been increasing evidence that genetic mechanisms contribute to the development of aspirin-intolerant asthma (AIA), 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 variations and AIA 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 C6 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.
authors.affiliation: Department of Life Science, Sogang University, Seoul, Korea.
authors.forename: Charisse Flerida A
authors.initials: CF
authors.lastname: Pasaje
authors.forename: Joon Seol
authors.initials: JS
authors.lastname: Bae
authors.forename: Byung-Lae
authors.initials: BL
authors.lastname: Park
authors.forename: Hyun Sub
authors.initials: HS
authors.lastname: Cheong
authors.forename: An-Soo
authors.initials: AS
authors.lastname: Jang
authors.forename: Soo-Taek
authors.initials: ST
authors.lastname: Uh
authors.forename: Mi-Kyeong
authors.initials: MK
authors.lastname: Kim
authors.forename: In Song
authors.initials: IS
authors.lastname: Koh
authors.forename: Jeong-Hyun
authors.initials: JH
authors.lastname: Kim
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Park
authors.forename: Jin-Sol
authors.initials: JS
authors.lastname: Lee
authors.forename: Yongha
authors.initials: Y
authors.lastname: Kim
authors.forename: Choon-Sik
authors.initials: CS
authors.lastname: Park
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People; D001241:Aspirin / Q000008:administration & dosage* / Q000009:adverse effects; D055963:Asthma, Aspirin-Induced / Q000453:epidemiology / Q000209:etiology / Q000235:genetics* / Q000276:immunology; D016022:Case-Control Studies; D015331:Cohort Studies; D003183:Complement C6 / Q000235:genetics*; D016172:DNA Fingerprinting; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D060148:HapMap Project; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D012307:Risk Factors
chemical_list: D003183:Complement C6; D001241:Aspirin