Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients
- Authors
- Pasaje, Charisse Flerida Arnejo; Bae, Joon Seol; Park, Byung-Lae; Cheong, Hyun Sub; Kim, Jeong-Hyun; Jang, An-Soo; Uh, Soo-Taek; Park, Choon-Sik; Shin, Hyoung Doo
- Issue Date
- 4-Jan-2012
- Publisher
- BioMed Central
- Citation
- BMC Medical Genetics, v.13
- Journal Title
- BMC Medical Genetics
- Volume
- 13
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/15417
- DOI
- 10.1186/1471-2350-13-2
- ISSN
- 1471-2350
- Abstract
- Background: Since subepithelial fibrosis and protruded extracellular matrix are among the histological characteristics of polyps, the emilin/multimerin domain-containing protein 2 (EMID2) gene is speculated to be involved in the presence of nasal polyps in asthma and aspirin-hypersensitive patients. Methods: To investigate the association between EMID2 and nasal polyposis, 49 single-nucleotide polymorphisms (SNPs) were genotyped in 467 asthmatics of Korean ancestry who were stratified further into 114 aspirin exacerbated respiratory disease (AERD) and 353 aspirin-tolerant asthma (ATA) subgroups. From pairwise comparison of the genotyped polymorphisms, 14 major haplotypes (frequency > 0.05) were inferred and selected for association analysis. Differences in the frequency distribution of EMID2 variations between polyp-positive cases and polyp-negative controls were determined using logistic analyses. Results: Initially, 13 EMID2 variants were significantly associated with the presence of nasal polyps in the overall asthma group (P = 0.0008-0.05, OR = 0.54-1.32 using various modes of genetic inheritance). Although association signals from 12 variants disappeared after multiple testing corrections, the relationship between EMID2_BL1_ht2 and nasal polyposis remained significant via a codominant mechanism (P-corr = 0.03). On the other hand, the nominal associations observed between the genetic variants tested for the presence of nasal polyps in AERD (P = 0.003-0.05, OR = 0.25-1.82) and ATA (P = 0.01-0.04, OR = 0.46-10.96) subgroups disappeared after multiple comparisons, suggesting lack of associations. Conclusions: These preliminary findings suggest that EMID2_BL1_ht2 may be a susceptibility marker of inflammation of the nasal passages among Korean asthma patients.
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Collections - College of Medicine > Department of Internal Medicine > 1. Journal Articles
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