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ABSTRACT Tuberculosis (TB) is caused _by Mycobacterium tuberculosis_. Host genetic factors are important for the detection of TB susceptibility. SLC11A1 is located in monocyte phagolysosomes

that help to limit _M. tuberculosis_ growth by transferring divalent cations across the membrane. Genetic variation in _SLC11A1_ may alter its expression and increase the susceptibility of

individuals to TB. The current study aimed to provide insight into host genetic variations and gene expression in TB patients. A total of 164 TB patients and 85 healthy controls were

enrolled in this study. _SLC11A1_ polymorphisms were detected by PCR-RFLP. Real-time qPCR was used for _SLC11A1_ gene expression, and ELISA was used for protein estimation. GTEx Portal was

used for quantitative trait loci analysis, while the STRING (v.11) web platform was used for gene interactive network construction. Data were analyzed using SPSS, GraphPad Prism, Haploview,

and SNPstats. _SLC11A1_ polymorphisms and combinatorial genotypes were strongly associated with TB susceptibility, which may explain the greater prevalence of tuberculosis in the local

population. Polymorphisms in _SLC11A1_ have also been linked to gene expression variation. Furthermore, the expression of _SLC11A1_ was downregulated in TB patients, which may influence the

function of other associated genes and may impair the immunological response to tuberculosis. Access through your institution Buy or subscribe This is a preview of subscription content,

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GENOMES IDENTIFIES DETERMINANTS OF HUMAN TUBERCULOSIS Article Open access 29 November 2024 GENOME-WIDE HOST-PATHOGEN ANALYSES REVEAL GENETIC INTERACTION POINTS IN TUBERCULOSIS DISEASE

Article Open access 01 February 2023 THE ASSOCIATION OF INFLAMMASOME AND _TLR2_ GENE POLYMORPHISMS WITH SUSCEPTIBILITY TO TUBERCULOSIS IN THE HAN TAIWANESE POPULATION Article Open access 23

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ACKNOWLEDGEMENTS We sincerely acknowledge the University of Health Sciences Lahore for supporting this study. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Immunology,

University of Health Sciences, Lahore, Pakistan Faheem Shahzad, Atia Ali, Ali Ammar, Mohammad Kashif, Khursheed Javaid, Shah Jahan, Romeeza Tahir & Nadeem Afzal * Department of Livestock

Management, Agriculture University Faisalabad, Faisalabad, Pakistan Noman Bashir * Continental Medical College, Lahore, Pakistan Ayesha Nadeem * Ameer-Ud-Din Medical College, Lahore,

Pakistan Muhammad Rizwan * Services Institute of Medical Sciences, Lahore, Pakistan Abid Mushtaq Authors * Faheem Shahzad View author publications You can also search for this author

inPubMed Google Scholar * Noman Bashir View author publications You can also search for this author inPubMed Google Scholar * Atia Ali View author publications You can also search for this

author inPubMed Google Scholar * Ayesha Nadeem View author publications You can also search for this author inPubMed Google Scholar * Ali Ammar View author publications You can also search

for this author inPubMed Google Scholar * Mohammad Kashif View author publications You can also search for this author inPubMed Google Scholar * Khursheed Javaid View author publications You

can also search for this author inPubMed Google Scholar * Shah Jahan View author publications You can also search for this author inPubMed Google Scholar * Romeeza Tahir View author

publications You can also search for this author inPubMed Google Scholar * Muhammad Rizwan View author publications You can also search for this author inPubMed Google Scholar * Abid Mushtaq

View author publications You can also search for this author inPubMed Google Scholar * Nadeem Afzal View author publications You can also search for this author inPubMed Google Scholar

CONTRIBUTIONS FS contributed by conceiving, planning, and designing the work, acquiring, analyzing, and interpreting the data, writing and submitting the work. NB contributed by acquiring,

drafting, and revising the work. AtA and AN contributed by acquiring, analyzing, and interpreting the data. AAm contributed by analyzing and interpreting the data and revising the work. MK

contributed by acquiring the data and by revising the work. KJ contributed by acquiring the data and by revising the work. SJ contributed by conceiving and designing the work, by analyzing

and interpreting the data and supervising the work. RT contributed by designing, drafting and revising the work. MR contributed by designing the work and analyzing the data. AM contributed

by acquiring and analyzing the data. NA contributed by conceiving and designing the work, by analyzing and interpreting the data, revising and approving the final draft and supervising the

overall work. CORRESPONDING AUTHOR Correspondence to Faheem Shahzad. ETHICS DECLARATIONS COMPETING INTERESTS The authors declare no competing interests. ADDITIONAL INFORMATION PUBLISHER’S

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CITE THIS ARTICLE Shahzad, F., Bashir, N., Ali, A. _et al._ _SLC11A1_ genetic variation and low expression may cause immune response impairment in TB patients. _Genes Immun_ 23, 85–92

(2022). https://doi.org/10.1038/s41435-022-00165-9 Download citation * Received: 03 October 2021 * Revised: 19 January 2022 * Accepted: 27 January 2022 * Published: 09 February 2022 * Issue

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