UBE3C genetic variations as potent markers of nasal polyps in Korean asthma patients

作者：Pasaje Charisse Flerida A; Kim Jeong Hyun; Park Byung Lae; Park Jong Sook; Uh Soo Taek; Kim Mi Kyeong; Park Choon Sik; Shin Hyoung Doo^*

来源：Journal of Human Genetics, 2011, 56(11): 797-800.

DOI：10.1038/jhg.2011.104

• aspirin-exacerbated respiratory disease
• haplotypes
• nasal polyp
• single-nucleotide polymorphism
• UBE3C

The human ubiquitin protein ligase E3C (UBE3C) regulates airway inflammatory responses and is hypothesized to be associated with the presence of nasal polyps in asthma-related diseases. A total of 24 UBE3C single-nucleotide polymorphisms (SNPs) were genotyped in a 467 Korean asthma cohort that was stratified into more homogenous phenotypes of 114 aspirinexacerbated respiratory disease subgroup and 353 aspirin-tolerant asthma (ATA) subjects. Association analysis revealed that 16 UBE3C SNPs were significantly associated with presence of nasal polyps in the overall asthma group (P=0.0008 and P(corr)=0.01; odds ratio (OR)=0.60). The strength of association from 10 polymorphisms was increased in the ATA subgroup (P=0.0002 and P(corr)=0.003; OR=0.49). In addition, UBE3C_ht1 was found to be consistently associated with nasal polyps in the overall asthmatics group (P=0.006) and the ATA phenotype (P=0.002; P(corr)=0.02) via a codominant mechanism. Our findings provide evidence that variations in UBE3C are potent genetic markers of nasal polyps development in Korean asthmatics and may contribute novel insights into the clinical relevance and potential involvement of UBE3C in respiratory deficiencies. Journal of Human Genetics (2011) 56, 797-800; doi: 10.1038/jhg.2011.104; published online 1 September 2011

• 出版日期2011-11