Contribution of the OBSCN Nonsynonymous Variants to Aspirin Exacerbated Respiratory Disease Susceptibility in Korean Population
DC Field | Value | Language |
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dc.contributor.author | Kim, Jeong-Hyun | - |
dc.contributor.author | Park, Byung-Lae | - |
dc.contributor.author | Pasaje, Charisse Flerida A. | - |
dc.contributor.author | Kim, Yongha | - |
dc.contributor.author | Bae, Joon Seol | - |
dc.contributor.author | Park, Jong Sook | - |
dc.contributor.author | Uh, Soo-Taek | - |
dc.contributor.author | Kim, Yong-Hoon | - |
dc.contributor.author | Kim, Mi-Kyeong | - |
dc.contributor.author | Choi, Inseon S. | - |
dc.contributor.author | Cho, Sang Heon | - |
dc.contributor.author | Choi, Byoung Whui | - |
dc.contributor.author | Koh, InSong | - |
dc.contributor.author | Park, Choon-Sik | - |
dc.contributor.author | Shin, Hyoung Doo | - |
dc.date.accessioned | 2021-08-12T03:25:30Z | - |
dc.date.available | 2021-08-12T03:25:30Z | - |
dc.date.issued | 2012-06 | - |
dc.identifier.issn | 1044-5498 | - |
dc.identifier.issn | 1557-7430 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/15153 | - |
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. | - |
dc.format.extent | 9 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | Mary Ann Liebert Inc. | - |
dc.title | Contribution of the OBSCN Nonsynonymous Variants to Aspirin Exacerbated Respiratory Disease Susceptibility in Korean Population | - |
dc.type | Article | - |
dc.publisher.location | 미국 | - |
dc.identifier.doi | 10.1089/dna.2011.1436 | - |
dc.identifier.scopusid | 2-s2.0-84864044036 | - |
dc.identifier.wosid | 000305871900015 | - |
dc.identifier.bibliographicCitation | DNA and Cell Biology, v.31, no.6, pp 1001 - 1009 | - |
dc.citation.title | DNA and Cell Biology | - |
dc.citation.volume | 31 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 1001 | - |
dc.citation.endPage | 1009 | - |
dc.type.docType | Article | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | sci | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Biochemistry & Molecular Biology | - |
dc.relation.journalResearchArea | Cell Biology | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Biochemistry & Molecular Biology | - |
dc.relation.journalWebOfScienceCategory | Cell Biology | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.subject.keywordPlus | OBSTRUCTIVE PULMONARY-DISEASE | - |
dc.subject.keywordPlus | AIRWAY SMOOTH-MUSCLE | - |
dc.subject.keywordPlus | SARCOPLASMIC-RETICULUM | - |
dc.subject.keywordPlus | GENE POLYMORPHISMS | - |
dc.subject.keywordPlus | INTOLERANT ASTHMA | - |
dc.subject.keywordPlus | ASSOCIATION | - |
dc.subject.keywordPlus | DIAGNOSIS | - |
dc.subject.keywordPlus | OBSCURIN | - |
dc.subject.keywordPlus | HYPERSENSITIVITY | - |
dc.subject.keywordPlus | PATHOGENESIS | - |
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