Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 고인송 | - |
dc.date.accessioned | 2018-04-20T00:42:55Z | - |
dc.date.available | 2018-04-20T00:42:55Z | - |
dc.date.issued | 2012-05 | - |
dc.identifier.citation | DNA and cell biology, 2012, 31(6), P.1001-1009 | en_US |
dc.identifier.issn | 1044-5498 | - |
dc.identifier.uri | https://www.liebertpub.com/doi/abs/10.1089/dna.2011.1436 | - |
dc.identifier.uri | https://repository.hanyang.ac.kr/handle/20.500.11754/70137 | - |
dc.description.abstract | Airway remodeling and exacerbated airway narrowing in asthma have been attributed to the regulation of intracellular Ca2+ by sarcoplasmic reticulum (SR) of the airway smooth muscle cells. The protein encoded by obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN) is a crucial factor in determining the SR architecture in Obscn−/− mice. This study genotyped a total of 55 common single-nucleotide polymorphisms (SNPs) in 592 Korean asthmatics including 163 aspirin exacerbated respiratory disease (AERD) cases and 429 aspirin-tolerant asthma (ATA) controls. Eight SNPs, including two nonsynonymous polymorphisms rs1188722C>T (Leu2116Phe) and rs1188729G>C (Cys4642Ser), and one haplotype BL2_ht1 showed statistically significant associations with AERD development (p=0.003–0.03). Two variants, rs1188722C>T (Leu2116Phe) and rs369252C>A, also revealed nominal association with FEV1 decline by aspirin provocation in asthmatics (p=0.03–0.04). Intriguingly, rs1188722C>T (Leu2116Phe) is a highly conserved amino acid residue among species, suggesting its functional relevance to AERD. In addition, the A allele of rs369252C>A, which was more prevalent in AERD than in ATA, was predicted as a potential branch point (BP) site for alternative splicing (BP score=4.29). Although further functional evaluation is required, our findings suggest that OBSCN polymorphisms, in particular, highly conserved nonsynonymous Leu2116Phe variant, might contribute to aspirin hypersensitivity in asthmatics. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Mary Ann Liebert, Inc. | en_US |
dc.subject | OBSTRUCTIVE PULMONARY-DISEASE | en_US |
dc.subject | AIRWAY SMOOTH-MUSCLE | en_US |
dc.subject | SARCOPLASMIC-RETICULUM | en_US |
dc.subject | GENE POLYMORPHISMS | en_US |
dc.subject | INTOLERANT ASTHMA | en_US |
dc.subject | ASSOCIATION | en_US |
dc.subject | DIAGNOSIS | en_US |
dc.subject | OBSCURIN | en_US |
dc.subject | HYPERSENSITIVITY | en_US |
dc.subject | PATHOGENESIS | en_US |
dc.title | Contribution of the OBSCN Nonsynonymous Variants to Aspirin Exacerbated Respiratory Disease Susceptibility in Korean Population | en_US |
dc.type | Article | en_US |
dc.relation.no | 6 | - |
dc.relation.volume | 31 | - |
dc.identifier.doi | 10.1089/dna.2011.1436 | - |
dc.relation.page | 1001-1009 | - |
dc.relation.journal | DNA AND CELL BIOLOGY | - |
dc.contributor.googleauthor | Pasaje, Charisse Flerida Park | - |
dc.contributor.googleauthor | Choon-Sik, Kim | - |
dc.contributor.googleauthor | Jeong-Hyun, Pasaje | - |
dc.contributor.googleauthor | Charisse Flerida, A. Kim | - |
dc.contributor.googleauthor | Yongha, Bae | - |
dc.contributor.googleauthor | Joon Seol, Shin | - |
dc.contributor.googleauthor | Hyoung Doo, Park | - |
dc.contributor.googleauthor | Byung-Lae, Park | - |
dc.contributor.googleauthor | Jong Sook, Uh | - |
dc.relation.code | 2012202618 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | insong | - |
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