Risk prediction of pulmonary tuberculosis using genetic and conventional risk factors in adult Korean population

Eun Pyo Hong, Min Jin Go, Hyung Lae Kim, Ji Wan Park

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13 Scopus citations


A complex interplay among host, pathogen, and environmental factors is believed to contribute to the risk of developing pulmonary tuberculosis (PTB). The lack of replication of published genome-wide association study (GWAS) findings limits the clinical utility of reported single nucleotide polymorphisms (SNPs). We conducted a GWAS using 467 PTB cases and 1,313 healthy controls obtained from two community-based cohorts in Korea. We evaluated the performance of PTB risk models based on different combinations of genetic and nongenetic factors and validated the results in an independent Korean population comprised of 179 PTB cases and 500 healthy controls. We demonstrated the polygenic nature of PTB and nongenetic factors such as age, sex, and body mass index (BMI) were strongly associated with PTB risk. None of the SNPs achieved genome-wide significance; instead, we were able to replicate the associations between PTB and ten SNPs near or in the genes, CDCA7, GBE1, GADL1, SPATA16, C6orf118, KIAA1432, DMRT2, CTR9, CCDC67, and CDH13, which may play roles in the immune and inflammatory pathways. Among the replicated SNPs, an intergenic SNP, rs9365798, located downstream of the C6orf118 gene showed the most significant association under the dominant model (OR = 1.59, 95% CI 1.32-1.92, P = 2.1×10-6). The performance of a risk model combining the effects of ten replicated SNPs and six nongenetic factors (i.e., age, sex, BMI, cigarette smoking, systolic blood pressure, and hemoglobin) were validated in the replication set (AUC = 0.80, 95% CI 0.76-0.84). The strategy of combining genetic and nongenetic risk factors ultimately resulted in better risk prediction for PTB in the adult Korean population.

Original languageEnglish
Article numbere0174642
JournalPLoS ONE
Issue number3
StatePublished - Mar 2017

Bibliographical note

Funding Information:
This research was supported by the Basic Science Research Program of the National Research Foundation of Korea (NRF) funded byof the Ministry of Education, Science and Technology (2014R1A1A3053168), the Korea Healthy Industry Development Institute (KHIDI) of the Ministry of Health & Welfare (HI14C0072), Republic of Korea (HI14C0072), and Hallym University Research Fund, 2014 (HRF-201403-015), Republic of Korea.

Publisher Copyright:
© 2017 Hong et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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