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Purpose: The human WD repeat-containing protein 46 (WDR46; also known as C6orf11), located at the disease-relevant centromere side of the class II major histocompatibility complex region, is hypothesized to be associated with risk of aspirin-exacerbated respiratory disease (AERD) as well as a decline in forced expiratory volume in the first second (FEV1), an important diagnostic marker of asthma. Methods: To investigate the association between WDR46 and AERD, five single-nucleotide polymorphisms (SNPs) were genotyped in 93 AERD cases and 96 aspirin-tolerant asthma controls of Korean ethnicity. Three major haplotypes were inferred from pairwise comparison of the SNPs, and one was included in the association analysis. Differences in the frequency distribution of WDR46 SNPs and haplotype were analyzed using logistic and regression models via various modes of genetic inheritance. Results: Depending on the genetic model, the logistic and regression analyses revealed significant associations between rs463260, rs446735, rs455567, rs469064, and WDR46_ht2 and the risk of AERD (P=0.007-0.04, Pcorr =0.01-0.04) and FEV1 decline after aspirin provocation (P=0.006-0.03, Pcorr =0.01-0.03). Furthermore, functional analysis in silico showed that the G>A allele of rs463260 located in the 5’ untranslated region potentially matched a nucleotide sequence within an upstream open reading frame of WDR46. Conclusions: These findings show for the first time that WDR46 is an important genetic marker of aspirin-induced airway inflammation and may be useful for formulating new disease-management strategies.

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기사명 저자명 페이지 원문 목차
Recent developments in united airways disease Giorgio Ciprandi, Davide Caimmi, Michele Miraglia del Giudice, Mario La Rosa, Carmelo Salpietro, Gian Luigi Marseglia pp.171-177

Diesel exhaust exposure, wheezing and sneezing David I. Bernstein pp.178-183

Effectiveness of same versus mixed asthma inhaler devices : a retrospective observational study in primary care David Price, Henry Chrystyn, Alan Kaplan, John Haughney, Miguel Román-Rodríguez, Annie Burden, Alison Chisholm, Elizabeth V. Hillyer, Julie von Ziegenweidt, Muzammil Ali … [et al.] pp.184-191

Seasonal factors influencing exercise-induced asthma Inseon S. Choi, Won-Joo Ki, Tae-Ock Kim, Eui-Ryoung Han, Il-Kook Seo pp.192-198

WDR46 is a genetic risk factor for aspirin-exacerbated respiratory disease in a Korean population Charisse Flerida A. Pasaje, Joon Seol Bae, Byung-Lae Park, Hyun Sub Cheong, Jeong-Hyun Kim, Soo-Taek Uh, Choon-Sik Park, Hyoung Doo Shin pp.199-205

Asian sand dust enhances allergen-induced Th2 allergic inflammatory changes and mucin production in BALB/c mouse lungs Il Gyu Kang, Joo Hyun Jung, Seon Tae Kim pp.206-213

Therapeutic effects of mycobacterial secretory proteins against established asthma in BALB/c mice Eui-Ryoung Han, Inseon S. Choi, Han-Gyu Choi, Hwa-Jung Kim pp.214-221

Roles of periostin in symptom manifestation and airway remodeling in a murine model of allergic rhinitis Dong Gu Hur, Roza Khalmuratova, Seong-Ki Ahn, Young-Sool Ha, Yang-Gi Min pp.222-230

Expression and roles of MMP-2, MMP-9, MMP-13, TIMP-1, and TIMP-2 in allergic nasal mucosa Sachiko Mori, Ruby Pawankar, Chika Ozu, Manabu Nonaka, Toshiaki Yagi, Kimihiro Okubo pp.231-239

Two series of familial cases with unclassified interstitial pneumonia with fibrosis Eun Lee, Ju-Hee Seo, Hyoung-Young Kim, Jinho Yu, Jin Woo Song, Young Soo Park, Se-Jin Jang, Kyung-Hyun Do, Jiwon Kwon, Sung-woo Park … [et al.] pp.240-244

Plasmapheresis in a patient with "refractory" urticarial vasculitis Ozgur Kartal, Mustafa Gulec, Zafer Caliskaner, Oral Nevruz, Turker Cetin, Osman Sener pp.245-247

Is It Possible to Achieve Better Asthma Control by Using the Same Inhaler Device? 신유섭, 박해심 pp.169-170

참고문헌 (20건) : 자료제공( 네이버학술정보 )

참고문헌 목록에 대한 테이블로 번호, 참고문헌, 국회도서관 소장유무로 구성되어 있습니다.
번호 참고문헌 국회도서관 소장유무
1 Aspirin-Exacerbated Respiratory Disease: Evaluation and Management 소장
2 The importance of COX-2 inhibition for aspirin induced asthma. 네이버 미소장
3 HLA association in aspirin-intolerant asthma: DPB1*0301 as a strong marker in a Korean population. 네이버 미소장
4 Association of SLC6A12 variants with aspirin-intolerant asthma in a Korean population. 네이버 미소장
5 A possible association of EMID2 polymorphisms with aspirin hypersensitivity in asthma. 네이버 미소장
6 Association analysis of DTD1 gene variations with aspirin-intolerance in asthmatics. 네이버 미소장
7 Association analysis of C6 genetic variations and aspirin hypersensitivity in Korean asthmatic patients 네이버 미소장
8 Identification of BING-4 cancer antigen translated from an alternative open reading frame of a gene in the extended MHC class II region using lymphocytes from a patient with a durable complete regression following immunotherapy. 네이버 미소장
9 TAPASIN, DAXX, RGL2, HKE2 and four new genes (BING 1, 3 to 5) form a dense cluster at the centromeric end of the MHC. 네이버 미소장
10 Heterotrimeric G protein signaling: Role in asthma and allergic inflammation 네이버 미소장
11 Akahoshi M, Obara K, Hirota T, Matsuda A, Hasegawa K, Takahashi N, Shimizu M, Nakashima K, Cheng L, Doi S, Fujiwara H, Miyatake A, Fujita K, Higashi N, Taniguchi M, Enomoto T, Mao XQ, Nakashima H, Adra CN, Nakamura Y, Tamari M, Shirakawa T. Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma. Hum Genet 2005;117:16-26. 미소장
12 Inflammatory cell populations and cytokine mRNA expression in the nasal mucosa in aspirin-sensitive rhinitis. 네이버 미소장
13 Effect of single nucleotide polymorphisms within the interleukin-4 promoter on aspirin intolerance in asthmatics and interleukin-4 promoter activity 네이버 미소장
14 EAACI/GA2LEN guideline: aspirin provocation tests for diagnosis of aspirin hypersensitivity 네이버 미소장
15 Allelic discrimination using fluorogenic probes and the 5' nuclease assay 네이버 미소장
16 Haploview: analysis and visualization of LD and haplotype maps. 네이버 미소장
17 PGA: power calculator for case-control genetic association analyses. 네이버 미소장
18 A Simple Correction for Multiple Testing for Single-Nucleotide Polymorphisms in Linkage Disequilibrium with Each Other 네이버 미소장
19 UTRdb and UTRsite (RELEASE 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. 네이버 미소장
20 Maquat LE. The power of point mutations. Nat Genet 2001;27:5-6. 미소장

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