Genome-wide association study of non-tuberculous mycobacterial pulmonary disease

Jaeyoung Cho, Kyungtaek Park, Sun Mi Choi, Jinwoo Lee, Chang Hoon Lee, Jung Kyu Lee, Eun Young Heo, Deog Kyeom Kim, Yeon Joo Lee, Jong Sun Park, Young Jae Cho, Ho Il Yoon, Jae Ho Lee, Choon Taek Lee, Nayoung Kim, Kyu Yeong Choi, Kun Ho Lee, Joohon Sung, Sungho Won, Jae Joon Yim

Research output: Contribution to journalArticlepeer-review


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=1.36×10-7), as the candidate genetic variant associated with NTM-PD susceptibility. Its association was subsequently replicated and the combined p value was 4.92×10-8. 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 (β,-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.

Original languageEnglish
Pages (from-to)169-177
Number of pages9
Issue number2
StatePublished - 1 Feb 2021


  • atypical mycobacterial infection

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