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Updated: Feb 15, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
The association of interferon-gamma, interleukin-4 and interleukin-17 single-nucleotide polymorphisms with
Fatemeh Mansouri1,2, Rasoul Heydarzadeh2,3, Saber Yousefi2,3
1Department of Genetics and Immunology, Faculty of Medicine, Urmia University of Medical Sciences, Urmia, Iran.
Abstract:
Susceptibility to tuberculosis and progression of the disease depend on interactions between the bacterial agent, host immune system, and environmental and genetic factors. In this case-controlled study, we aimed to determine the role of single-nucleotide polymorphisms of interferon-gamma, interleukin-4 and interleukin-17 in susceptibility to tuberculosis. Genomic DNA was extracted from peripheral blood samples of patients and controls. The association of single-nucleotide polymorphisms in interleukin-4 (-590C/T), interleukin-17 (-152A/G) and interferon-gamma (+874T/A) was investigated by polymerase chain reaction (PCR)-restriction fragment length polymorphism and amplification refractory mutation system-PCR. A total of 76 tuberculosis patients and 119 healthy individuals were included in this study. The interferon-gamma (+874T/A) TA genotype was significantly associated with susceptibility to tuberculosis in patients compared to controls (OR = 1.76; 95%CI = 0.84-3.71; p = 0.007), while the interferon-gamma (+874T/A) TT genotype (OR = 0.51; 95%CI = 0.19-1.36; p = 0.007) had protective effects against tuberculosis and was related to a low risk of tuberculosis development. The difference between allelic and genotypic frequencies of interleukin-4 (-590C/T) between patients and controls was not significant (p = 0.46). Multivariate logistic regression analysis revealed that the interleukin-17 (-152A/G) AG genotype (OR = 2.27; 95%CI = 1.19-4.34; p = 0.03) and AA genotype (OR = 1.03; 95%CI = 0.43-2.44; p = 0.03) were significantly different between patients and controls. In conclusion, single-nucleotide mutations in different cytokine genes may have protective effects or increase the risk of tuberculosis.
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