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Nasal polyps are abnormal lesions arising mainly from the nasal mucosa andparanasal sinuses. Since the human class II, major histocompatibility complex,transactivator (CIITA) is a positive regulator of class II, major histocompatibilitycomplex gene transcription, the CIITA gene is thought to be involved in the presenceof nasal polyps in asthma and aspirin hypersensitive patients. To investigatethe association between CIITA and nasal polyposis, 18 single nucleotide polymorphisms(SNPs) were genotyped in 467 asthmatics who were classified into 158 aspirin-exacerbatedrespiratory disease (AERD) and 309 aspirin-tolerant asthma (ATA) subgroups. Differencesin the frequency distribution of CIITA variations between polyp-positive casesand polyp-negative controls were determined using logistic analyses. Initially,a total of 9 CIITA variants were significantly associated with the presence ofnasal 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 AERDgroup; P=0.001‑0.05, OR=0.45-2.61 in the ATA group using various modes of geneticinheritance]. One the variations (rs12932187) retained this association aftermultiple testing corrections (Pcorr=0.01) in the overall asthma group. In addition,two variations (rs12932187 and rs11074938) were associated with the presence ofnasal polyps following multiple testing corrections (Pcorr=0.02 and 0.04, respectively)in the ATA group. These novel findings suggest that rs12932187 and rs11074938may constitute susceptibility markers of inflammation of the nasal passages inasthma patients.

Genetic association analysis of CIITA variations with nasal polyp pathogenesis in asthmatic patients