Insertion Polymorphism of the CYP2E1 Gene in Patients with Infiltrative Pulmonary Tuberculosis from Bashkortostan

Cytokine gene polymorphisms are known to be associated with functional differences in cytokine regulation and may affect host susceptibility to tuberculosis (TB). Contacts are important group in developing tuberculosis infection and are 10–60 times more likely to develop TB than general population. The present study was carried out in patients with TB (N = 176), their household contacts (HHC; N = 155) from Free Chest TB Clinic PPM DOTS (1TU) covering 500,000 population at Mahavir Hospital and Research Centre, Hyderabad, and healthy controls (HC; N = 170) also included. The association of single‐nucleotide polymorphisms (SNPs) in the promoter region of TNF‐α (−308G/A), IL‐2 (−330T/G), IL‐4 (−589C/T) and in exon region of TGF‐β1 (+869T/C) genes was assessed by ARMS & PCR‐RFLP using specific primers in the above‐mentioned subjects. The differences in allelic or genotypic frequencies of TNF‐α (−308G/A) between patients, their HHC and HC were not statistically significant (P > 0.05). IL‐2 (−330T/G) TG genotype was significantly different between patients, HHC compared to HC (P < 0.002, OR‐1.997, 95%CI‐1.260‐3.168, P < 0.03, OR‐1.602, 955CI‐1.003‐2.561).IL‐4 (−589C/T) CC genotype was significantly different between patients and HC (P < 0.03, OR‐1.791, 95%CI‐1.009‐3.189) as well as between HHC and HC at P < 0.0001, OR‐2.56, 95%CI‐1.448‐4.545. In addition, the TGF‐β 1 (+869T/C) TC genotype was significantly associated with susceptibility to tuberculosis in patients when compared against HC(P < 0.0001, OR‐3.416, 95%CI‐2.063‐5.670) and HHC (P < 0.0001, OR‐2.357, 95%CI‐1.439‐3.868), respectively.MDR analysis indicated that TT genotype of TGF‐β1 with TT and CT genotypes of IL‐4 showed high risk with GA, TT genotypes of TNF‐α, IL‐2, respectively. Our results suggest that IL‐2 (‐330T/G), IL‐4 (‐589 C/T) and TGF‐β1 (+869T/C) gene polymorphisms may be associated with TB susceptibility.

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“…However, Bikmaeva et al . have shown an association of ‘A’ allele with risk of pulmonary TB in Russian population. Scola et al .…”

Section: Discussionmentioning

confidence: 90%

Association of Cytokine Gene Polymorphisms in Patients with Tuberculosis and Their Household Contacts

Ramya¹,

Ponnana²,

Thada³

et al. 2014

Scand J Immunol

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“…Our data indicate that TNF-α production was reduced in our PTB patients. Although the study by Scola et al demonstrated a reduction in the low-producing −308 G/G TNF-α homozygous individuals in the affected group [ 24 ], and the study of Bikmaeva et al revealed an association between the high-producing A allele and a higher risk of PTB [ 27 ], although several studies have failed to confirm the association between TNF-α and TB [ 28 ].…”

Section: Discussionmentioning

confidence: 99%

Association between cytokine gene polymorphisms and tuberculosis in a Chinese population in Shanghai: a case–control study

et al. 2015

BMC Immunol

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BackgroundPolymorphisms in cytokine genes are known to influence cytokine levels, which may influence susceptibility to tuberculosis (TB) infection and disease. Differences in cytokine expression probably determine whether TB progresses, resolves, or becomes latent. In particular, the balance between the Th1 and Th2 cytokine responses influences the expression of disease in individuals with pulmonary TB (PTB). We performed a case–control study of 120 patients diagnosed with PTB, 240 with latent TB infection (LTBI), and 480 healthy controls (HC), to explore the association between polymorphisms in cytokine genes and a predisposition to Mycobacterium tuberculosis infection and TB disease.ResultsA single-gene analysis showed a dominant association between the AA genotype or A allele at nucleotide −874 of the interferon γ (IFN-γ) gene and LTBI. The A allele at nucleotide −1082 of the interleukin 10 (IL-10) gene was significantly more common in PTB patients than in LTBI subjects. Moreover, the polymorphisms at IFN-γ −874 and IL10 − 1082 were associated with protein levels of IFN-γ and IL-10, respectively, in the PTB group. The genotype frequencies of other polymorphisms did not differ between the PTB patients, LTBI and HC subjects. Furthermore, combinations of polymorphisms with IFN-γ −874 were associated with LTBI, whereas combinations with IL10 − 1082 were more likely associated with PTB.ConclusionsThere are positive associations between the IFN-γ −874 polymorphism and TB and between the IL10 − 1082 polymorphism and LTBI. Our data provide genetic evidence of the multiple disease hypothesis that many cytokine genes are involved in TB susceptibility.

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“…Wu et al (2019) reported rs1800629 associated with tuberculosis in the Tibetan but not in the Han Chinese population (Wu et al, 2019). Meanwhile, Bikmaeva et al (2002) showed an association between the 'A' allele and risk of pulmonary tuberculosis within the Russian population (Bikmaeva et al, 2002). Scola et al (2003) reported reduced low-producer GG homozygous individuals in Caucasian TB patients (Scola et al, 2003).…”

Section: Resultsmentioning

confidence: 99%

The Use of High Resolution Melting (HRM) Method to Detect rs1800629 of Tumor Necrosis Factor-alpha (TNF-alpha) Gene among Tuberculosis Patients

Prayuni

Razari²,

Nihayah³

et al. 2021

Med.Lab.Tech.J.

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The rs1800629 polymorphism plays a crucial role in the pathogenesis of infectious and autoimmune diseases. Meanwhile, tuberculosis (TB) remains a health primary infectious disease in Indonesia. The purpose of this study is to evaluate the HRM method in detecting the rs1800629 genotype, in the TNF-α gene’s promoter region, within TB patients. The benefit of this study is to accelerate the detection of rs1800629 with a simple, rapid, and cost-effective method for genotyping and mutation screening that does not include the use of a fluorescent probe. In this experimental study, the rs1800629 genotyped in a total of 25 tuberculosis patients using KAPA HRM kit in MyGo Mini PCR, and all amplified PCR products subsequently dispatched for direct DNA sequencing to Macrogen Inc, South Korea. Based on the results, a 100% concordance find in the genotyping of rs1800629 between HRM and sequencing. The authors provided evidence to use HRM in detecting rs1800629 within the TNF-α promotor region. This application as a genotyping assay in tuberculosis patients is a low-cost, rapid, and accurate detection. However, further studies using the HRM method in case-control samples of tuberculosis are required to evaluate the method’s effectiveness and to obtain more information regarding the genotype’s susceptibility to tuberculosis and its adverse effect treatment, including anti-tuberculosis drug, induced liver injury (AT-DILI), and multidrug-resistant TB (MDR-TB), within the Indonesian population.

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Insertion Polymorphism of the CYP2E1 Gene in Patients with Infiltrative Pulmonary Tuberculosis from Bashkortostan

Cited by 10 publications

References 18 publications

Association of Cytokine Gene Polymorphisms in Patients with Tuberculosis and Their Household Contacts

Association of Cytokine Gene Polymorphisms in Patients with Tuberculosis and Their Household Contacts

Association between cytokine gene polymorphisms and tuberculosis in a Chinese population in Shanghai: a case–control study

The Use of High Resolution Melting (HRM) Method to Detect rs1800629 of Tumor Necrosis Factor-alpha (TNF-alpha) Gene among Tuberculosis Patients

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