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Genome-wide association study of non-tuberculous mycobacterial pulmonary disease
DC Field | Value | Language |
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dc.contributor.author | Cho, Jaeyoung | - |
dc.contributor.author | Park, Kyungtaek | - |
dc.contributor.author | Choi, Sun Mi | - |
dc.contributor.author | Lee, Jinwoo | - |
dc.contributor.author | Lee, Chang-Hoon | - |
dc.contributor.author | Lee, Jung-Kyu | - |
dc.contributor.author | Heo, Eun Young | - |
dc.contributor.author | Kim, Deog Kyeom | - |
dc.contributor.author | Lee, Yeon Joo | - |
dc.contributor.author | Park, Jong Sun | - |
dc.contributor.author | Cho, Young-Jae | - |
dc.contributor.author | Yoon, Ho Il | - |
dc.contributor.author | Lee, Jae Ho | - |
dc.contributor.author | Lee, Choon-Taek | - |
dc.contributor.author | Kim, Nayoung | - |
dc.contributor.author | Choi, Kyu Yeong | - |
dc.contributor.author | Lee, Kun Ho | - |
dc.contributor.author | Sung, Joohon | - |
dc.contributor.author | Won, Sungho | - |
dc.contributor.author | Yim, Jae-Joon | - |
dc.date.accessioned | 2024-08-08T01:24:45Z | - |
dc.date.available | 2024-08-08T01:24:45Z | - |
dc.date.created | 2021-03-17 | - |
dc.date.created | 2021-03-17 | - |
dc.date.issued | 2021-02 | - |
dc.identifier.citation | Thorax, Vol.76 No.2, pp.169-177 | - |
dc.identifier.issn | 0040-6376 | - |
dc.identifier.uri | https://hdl.handle.net/10371/205796 | - |
dc.description.abstract | Background The prevalence of non-tuberculous mycobacterial pulmonary disease (NTM-PD) is increasing in South Korea and many parts of the world. However, the genetic factors underlying susceptibility to this disease remain elusive. Methods To identify genetic variants in patients with NTM-PD, we performed a genome-wide association study with 403 Korean patients with NTM-PD and 306 healthy controls from the Healthy Twin Study, Korea cohort. Candidate variants from the discovery cohort were subsequently validated in an independent cohort. The Genotype-Tissue Expression (GTEx) database was used to identify expression quantitative trait loci (eQTL) and to conduct Mendelian randomisation (MR). Results We identified a putatively significant locus on chromosome 7p13, rs849177 (OR, 2.34; 95% CI, 1.71 to 3.21; p=1.36x10(-7)), as the candidate genetic variant associated with NTM-PD susceptibility. Its association was subsequently replicated and the combined p value was 4.92x10(-8). The eQTL analysis showed that a risk allele at rs849177 was associated with lower expression levels of STK17A, a proapoptotic gene. In the MR analysis, a causal effect of STK17A on NTM-PD development was identified (beta, -4.627; 95% CI, -8.768 to -0.486; p=0.029). Conclusions The 7p13 genetic variant might be associated with susceptibility to NTM-PD in the Korean population by altering the expression level of STK17A. | - |
dc.language | 영어 | - |
dc.publisher | BMJ Publishing Group | - |
dc.title | Genome-wide association study of non-tuberculous mycobacterial pulmonary disease | - |
dc.type | Article | - |
dc.identifier.doi | 10.1136/thoraxjnl-2019-214430 | - |
dc.citation.journaltitle | Thorax | - |
dc.identifier.wosid | 000610880000010 | - |
dc.identifier.scopusid | 2-s2.0-85094945447 | - |
dc.citation.endpage | 177 | - |
dc.citation.number | 2 | - |
dc.citation.startpage | 169 | - |
dc.citation.volume | 76 | - |
dc.description.isOpenAccess | N | - |
dc.contributor.affiliatedAuthor | Lee, Jinwoo | - |
dc.contributor.affiliatedAuthor | Kim, Deog Kyeom | - |
dc.contributor.affiliatedAuthor | Lee, Yeon Joo | - |
dc.contributor.affiliatedAuthor | Yoon, Ho Il | - |
dc.contributor.affiliatedAuthor | Lee, Jae Ho | - |
dc.contributor.affiliatedAuthor | Lee, Choon-Taek | - |
dc.contributor.affiliatedAuthor | Kim, Nayoung | - |
dc.contributor.affiliatedAuthor | Sung, Joohon | - |
dc.contributor.affiliatedAuthor | Won, Sungho | - |
dc.contributor.affiliatedAuthor | Yim, Jae-Joon | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.subject.keywordPlus | GENE-EXPRESSION | - |
dc.subject.keywordPlus | LUNG-DISEASE | - |
dc.subject.keywordPlus | TUBERCULOSIS | - |
dc.subject.keywordPlus | APOPTOSIS | - |
dc.subject.keywordPlus | INFECTION | - |
dc.subject.keywordPlus | SUSCEPTIBILITY | - |
dc.subject.keywordPlus | EPIDEMIOLOGY | - |
dc.subject.keywordPlus | MACROPHAGES | - |
dc.subject.keywordPlus | IMPUTATION | - |
dc.subject.keywordPlus | SURVIVAL | - |
dc.subject.keywordAuthor | atypical mycobacterial infection | - |
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