Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients.
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.
Department of Life Science, Sogang University, Seoul, 121-742, Republic of Korea.
Charisse Flerida Arnejo
CF
Pasaje
Joon Seol
JS
Bae
Byung-Lae
BL
Park
Hyun Sub
HS
Cheong
Jeong-Hyun
JH
Kim
An-Soo
AS
Jang
Soo-Taek
ST
Uh
Choon-Sik
CS
Park
Hyoung Doo
HD
Shin
D000293:Adolescent; D000328:Adult; D000368:Aged; D000954:Antigens, Surface / Q000235:genetics* / Q000378:metabolism*; D044466:Asian People / Q000235:genetics*; D001241:Aspirin / Q000276:immunology; D001249:Asthma / Q000150:complications* / Q000235:genetics*; D004342:Drug Hypersensitivity / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D016015:Logistic Models; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism*; D008875:Middle Aged; D009298:Nasal Polyps / Q000150:complications* / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea
D000954:Antigens, Surface; C089826:EMILIN3 protein, human; D008562:Membrane Glycoproteins; D001241:Aspirin