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Association between CD53 genetic polymorphisms and tuberculosis cases

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Abstract

Background

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).

Objectives

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

Methods

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.

Results

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.

Discussion

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.

Conclusion

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

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Acknowledgements

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).

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Authors and Affiliations

  1. Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University, Asan, Chungnam, 31499, South Korea

    Hyun-Seok Jin & Sangjung Park

  2. Department of Biomedical Laboratory Science, Daegu Health College, Daegu, 41453, South Korea

    Jang-Eun Cho

Authors
  1. Hyun-Seok Jin
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  2. Jang-Eun Cho
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Correspondence to Sangjung Park.

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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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Jin, HS., Cho, JE. & Park, S. Association between CD53 genetic polymorphisms and tuberculosis cases. Genes Genom 41, 389–395 (2019). https://doi.org/10.1007/s13258-018-0764-3

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  • DOI: https://doi.org/10.1007/s13258-018-0764-3

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