Genes & Genomics

, Volume 41, Issue 4, pp 389–395 | Cite as

Association between CD53 genetic polymorphisms and tuberculosis cases

  • Hyun-Seok Jin
  • Jang-Eun Cho
  • Sangjung ParkEmail author
Research Article



Tetraspanin proteins are expressed in various immune cells, and they play an important role in tuberculosis formation. CD53 is a protein in the tetraspanin family that is expressed in many white blood cells. In particular, it plays an important role in cytokine regulation and interaction between natural killer (NK) cells and antigen-presenting cells (APCs).


The purpose of this study was to investigate whether the single nucleotide polymorphisms (SNPs) difference of CD53 gene could affect TB case.


In this study, we investigated the effects of genetic polymorphism of CD53 on the pathogenesis of tuberculosis based on Korean Association Resource (KARE) data. Logistic regression analysis was used to determine the effect of SNPs of the CD53 gene on tuberculosis in TB cases and control groups. We also examined the effect of SNPs on tuberculosis in gene expression.


Eight SNPs of CD53 were found to be associated with TB case. The SNP showing the greatest significance in this association was rs4839583 (odds ratio = 0.83, 95% confidence interval 0.72–0.96, p = 0.010). These genetic variants might be involved in cytokine regulation through the Jun pathway, and are thought to affect the immune responses and pathogenesis of TB.


CD53 is a type of tetraspanin that is expressed on various immune cells. In this study, we identified eight statistically significant SNPs in CD53 gene, confirming that it could be involved in the regulation of CD53 gene expression.


Associations between genetic variants and tuberculosis facilitated better understanding of the differences in the incidence of tuberculosis in various populations.


Tuberculosis Mycobacterium tuberculosis CD53 Tetraspanin SNP 



This research was supported by the Basic Science Research Program of the National Research Foundation of Korea (NRF), funded by the Ministry of Science, ICT and Future Planning (2017R1C1B5016589).

Compliance with ethical standards

Conflict of interest

Hyun-Seok Jin, Jang-Eun Cho and Sangjung Park declare that they have no conflict of interest.

Ethical approval

This study had been approved by the institutional review board of the Korean National Institute of Health (KNIH) and Hoseo University (1041231-170221-HR-055-01). Informed consent was obtained from all individual participants included in the study.


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Copyright information

© The Genetics Society of Korea and Springer Nature B.V. 2018

Authors and Affiliations

  1. 1.Department of Biomedical Laboratory Science, College of Life and Health SciencesHoseo UniversityAsanSouth Korea
  2. 2.Department of Biomedical Laboratory ScienceDaegu Health CollegeDaeguSouth Korea

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