title: Genetic association analysis of CIITA variations with nasal polyp pathogenesis             in asthmatic patients.
abstract: Nasal polyps are abnormal lesions arising mainly from the nasal mucosa and             paranasal sinuses. Since the human class II, major histocompatibility complex,             transactivator (CIITA) is a positive regulator of class II, major histocompatibility             complex gene transcription, the CIITA gene is thought to be involved in the presence             of nasal polyps in asthma and aspirin hypersensitive patients. To investigate             the association between CIITA and nasal polyposis, 18 single nucleotide polymorphisms             (SNPs) were genotyped in 467 asthmatics who were classified into 158 aspirin-exacerbated             respiratory disease (AERD) and 309 aspirin-tolerant asthma (ATA) subgroups. Differences             in the frequency distribution of CIITA variations between polyp-positive cases             and polyp-negative controls were determined using logistic analyses. Initially,             a total of 9 CIITA variants were significantly associated with the presence of             nasal polyps in the overall asthma, AERD and ATA groups [P=0.001-0.05, odds ratio             (OR)=0.53-2.35 in the overall asthma group; P=0.01-0.02, OR=2.45-2.66 in the AERD             group; P=0.001‑0.05, OR=0.45-2.61 in the ATA group using various modes of genetic             inheritance]. One the variations (rs12932187) retained this association after             multiple testing corrections (Pcorr=0.01) in the overall asthma group. In addition,             two variations (rs12932187 and rs11074938) were associated with the presence of             nasal polyps following multiple testing corrections (Pcorr=0.02 and 0.04, respectively)             in the ATA group. These novel findings suggest that rs12932187 and rs11074938             may constitute susceptibility markers of inflammation of the nasal passages in             asthma patients.
authors.affiliation: Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul                     153-803, Republic of Korea.
authors.forename: Joon Seol
authors.initials: JS
authors.lastname: Bae
authors.forename: Charisse Flerida A
authors.initials: CF
authors.lastname: Pasaje
authors.forename: Byung Lae
authors.initials: BL
authors.lastname: Park
authors.forename: Hyun Sub
authors.initials: HS
authors.lastname: Cheong
authors.forename: Jeong-Hyun
authors.initials: JH
authors.lastname: Kim
authors.forename: Soo-Taek
authors.initials: ST
authors.lastname: Uh
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; D001249:Asthma / Q000235:genetics* / Q000473:pathology; D055963:Asthma, Aspirin-Induced / Q000235:genetics / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009298:Nasal Polyps / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D015534:Trans-Activators / Q000235:genetics*; D055815:Young Adult
chemical_list: C083728:MHC class II transactivator protein; D009687:Nuclear Proteins; D015534:Trans-Activators