Comprehensive Analysis of Pathogenic Variants in Tuberculosis Susceptibility Genes and Their Correlation with Incidence Rates Across Multiple Continents: A Comparative Study:

Danang P. Amukti; Lalu muhammad irham; Wirawan  Adikusuma; Sabiah  Khairi; Petrina T   Philothra; Ichtiarini N  Santri; Isom  Hilmi; Rockie  Chong; Daraporn Rungprai; Satriya  Pranata; Baik H  Rispawati; Ilker  Ates

doi:10.46829/hsijournal.2026.4.8.2.1476-1489

Danang P. Amukti Department of Pharmacy, Faculty of Health Sciences, Alma Ata University, Yogyakarta, Indonesia
Lalu muhammad irham Faculty of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta, Indonesia
Wirawan Adikusuma Research Center for Computing, Research Organization for Electronics and Informatics, National Research and Innovation Agency (BRIN), Cibinong Science Center, Cibinong, Indonesia
Sabiah Khairi Research Center for Computing, Research Organization for Electronics and Informatics, National Research and Innovation Agency (BRIN), Cibinong Science Center, Cibinong, Indonesia
Petrina T Philothra Department of Rehabilitation Medicine, General Hospital Yogyakarta City, Yogyakarta, Indonesia
Ichtiarini N Santri Faculty of Public Health, Universitas Ahmad Dahlan, Yogyakarta, Indonesia;
Isom Hilmi Department of Physics, Faculty of Applied Science and Technology, Universitas Ahmad Dahlan, Yogyakarta, Indonesia
Rockie Chong Department of Chemistry and Biochemistry, University of California, Los Angeles, USA
Daraporn Rungprai Faculty of Pharmacy, Silpakorn University, Nakhon Pathom, Thailand
Satriya Pranata Department of Nursing, Faculty of Nursing and Health Sciences, Universitas Muhammadiyah Semarang, Semarang, Central Java, Indonesia
Baik H Rispawati Institute Kesehatan YARSI Mataram, Mataram, Indonesia
Ilker Ates Faculty of Pharmacy, Department of Toxicology, Ankara University, Yenimahalle, Ankara, Turkey

DOI: https://doi.org/10.46829/hsijournal.2026.4.8.2.1476-1489

Keywords: bioinformatics, tuberculosis, genomic variants, susceptibility genes, drug discovery, drug repurposing, therapeutic targets

Abstract

Background: Tuberculosis (TB), caused by Mycobacterium tuberculosis, remains one of the leading infectious diseases worldwide. Host genetic variation plays a crucial role in determining susceptibility to TB infection; however, the distribution and impact of genetic variants across global populations are not yet fully understood.
Objective: This study aimed to identify genetic variants associated with susceptibility to TB infection and to evaluate their allele frequencydistribution and correlation with TB incidence across different populations..
Methods: A bioinformatics approach was employed to analyze four key genetic variants: rs35296992 (LGSN), rs9272785 (HLA-DQA1), rs41553512 (HLA-DRB5), and rs2269497 (RGS12). Analyses included global allele frequency distribution, correlation testing with TB incidence, and gene expression profiling across multiple tissues.
Results: The findings revealed significant geographic variation in allele frequencies. American populations exhibited higher frequencies of rs41553512 and rs2269497, African populations showed the highest frequency of rs9272785, while European populations had the highest frequency of rs35296992. Correlation analysis demonstrated a positive association between all variants and TB incidence, with rs9272785
showing the strongest correlation, followed by rs35296992. Variants rs41553512 and rs2269497 also showed significant but weaker correlations. Additionally, these variants exhibited distinct expression patterns in lung, liver, and whole blood tissues, highlighting their potential role in immune response mechanisms.
Conclusion: The identified genetic variants significantly contribute to TB susceptibility and display population-specific distributions. These findings emphasize the importance of genomic approaches in understanding host–pathogen interactions and support the development of personalized therapeutic strategies. Such insights may enhance TB prevention and treatment outcomes across diverse populations.

Comprehensive Analysis of Pathogenic Variants in Tuberculosis Susceptibility Genes and Their Correlation with Incidence Rates Across Multiple Continents: A Comparative Study

Pathogenic variants in TB susceptibility genes

Abstract