Polymorphisms in NRAMP1 and MBL2 genes and their relations with tuberculosis in Turkish children

Solgun, Huseyin Avni; Taştemir, Deniz; Aksaray, Necmi; Inan, Ilker; Demırhan, Osman

doi:10.5578/tt.2385

Cited by 15 publications

(12 citation statements)

References 43 publications

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“…Several studies have found a significant association between the frequency of structural alleles or promoter polymorphisms and serum MBL levels with susceptibility to TB [20, 23, 24, 26–30] while others did not find any significant association [19, 21, 25]. Recently a meta-analysis of 17 human trials considering the effect of MBL2 genotype and/or MBL levels and TB infection did not found significant association between MBL2 genotype and pulmonary TB infection [22].…”

Section: Introductionmentioning

confidence: 99%

Mannose-Binding Lectin Promoter Polymorphisms and Gene Variants in Pulmonary Tuberculosis Patients from Cantabria (Northern Spain)

et al. 2012

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Mannose-binding lectin is a central molecule of the innate immune system. Mannose-binding lectin 2 promoter polymorphisms and structural variants have been associated with susceptibility to tuberculosis. However, contradictory results among different populations have been reported, resulting in no convincing evidence of association between mannose-binding lectin 2 and susceptibility to tuberculosis. For this reason, we conducted a study in a well genetically conserved Spanish population in order to shed light on this controversial association. We analysed the six promoter and structural mannose-binding lectin 2 gene variants in 107 patients with pulmonary tuberculosis and 441 healthy controls. Only D variant and HYPD haplotype were significantly more frequents in controls which would indicate that this allele could confer protection against pulmonary tuberculosis, but this difference disappeared after statistical correction. Neither the rest of alleles nor the haplotypes were significantly associated with the disease. These results would indicate that mannose-binding lectin promoter polymorphisms and gene variants would not be associated with an increased risk to pulmonary tuberculosis. Despite the slight trend of the D allele and HYPD haplotype in conferring protection against pulmonary tuberculosis, susceptibility to this disease would probably be due to other genetic factors, at least in our population.

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Section: Introductionmentioning

confidence: 99%

Mannose-Binding Lectin Promoter Polymorphisms and Gene Variants in Pulmonary Tuberculosis Patients from Cantabria (Northern Spain)

et al. 2012

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“…Potential malfunction of these aspects may affect innate and adaptive immune responses to M. Tuberculosis infection (6). In some studies performed in different ethnical population, weak and/or strong evidence of linkage was found between Nramp1 and TB (10)(11)(12)(13)(14)(15)(16)(17)(18). Polymorphisms in the Nramp1 gene have also been found in a number of genetic studies to be risk factors for the development of TB among adult populations (13)(14)(15)18).…”

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confidence: 99%

Association of the Nramp1 gene polymorphisms and clinical forms in patients with tuberculosis

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Demırhan³

et al. 2012

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Background: Recent studies have reported that Nramp1 polymorphisms might have an important role in the development of tuberculosis in various populations. In this study, we aimed to determine Nramp1 polymorphisms in our patients with tuberculosis population. Methods: We enrolled 127 patients with active tuberculosis and 116 healthy adults with similar age and gender. Peripheral blood samples were taken for determining the Nramp1 polymorphisms. By using Polymerase Chain Reaction (PCR)-Restriction Fragment Length Polymorphisms (RFLP) technique, we evaluated the polymorphisms of Nramp1 at the regions of D543N and INT4. Results: We found that the Nramp1 polymorphisms at the region of D543N (OR: 0.44, 95%CI: 0.09-2.06 for GA allele) were not a risk factor for tuberculosis. Furthermore, we could not able to detect Nramp1 polymorphism at the regions of INT4 (OR: 0.97, 95%CI: 0.55-1.72 for GC allele and OR: 0.90, 95%CI: 0.21-3.77 for CC allele). Conclusion: The fi ndings of the present study do not support the hypothesis that Nramp1 at the regions of D543 and INT4 might play a role in infl uencing the growth of bacilli and progression of cavitary tuberculosis rather than susceptibility to M. tuberculosis infection. Future studies are needed to elucidate the role of Nramp1 variants in the pathogenesis of tuberculosis (Tab. 3, Ref. 29).

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“…The authors hypothesized that heterozygosity for MBL2 variant alleles, responsible for low serum MBL levels, was associated with protection against clinical TB. Studies in Danish patients [13] and Turkish children [42] showed no association between MBL2 polymorphisms at the codons 54 and susceptibility to TB. A large study in India showed that a significantly increased genotype frequency of MBL mutant homozygotes was seen in pulmonary TB patients as compared with that in control subjects [59].…”

Section: Discussionmentioning

confidence: 91%

“…PCR amplification products were analyzed on a polyacrylamide gel to detect alterations in PCR-amplified products. The primer sequences were previously reported [27,39,42] and listed in Table 1. To ensure the validity of result, we also did the DNA sequencing on the 5% representative isolates to check the PCR.…”

Section: Genotypingmentioning

confidence: 99%

Mannose-Binding Lectin ( MBL ) gene polymorphisms in susceptibility to pulmonary tuberculosis among the Lur population of Lorestan Province of Iran

et al. 2017

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ObjectiveTuberculosis (TB) is caused by infection of Mycobacterium tuberculosis. Host genetic variability is an important determinant of the risk of developing TB in humans. Although the association between MBL polymorphisms and TB has been studied in various populations, the results are controversial. The aim of this study was to investigate mannose-binding lectin (MBL) gene polymorphisms with susceptibility to pulmonary tuberculosis (PTB) in a Lur population of Iran.MethodsIn this case-control study, four functional MBL gene polymorphisms (HL, XY, PQ and AB) were genotyped by using PCR Single Strand Conformation Polymorphism (SSCP) technique in a Lur population living in Lorestan Province, consisting of 100 patients with pulmonary tuberculosis (PTB) age and sex matched 100 healthy controls (HCs). Association analyses were performed with the SPSS 21 statistical software.ResultsWe found that MBL (HH) genotype polymorphism significantly was associated with increased susceptibility to TB (35% in patients vs. 22% in controls, P = 0.0417, OR = 1.909, %95 CI = 1.020–3.573). Additionally, H allele showed a significant association with increased risk of TB (56.5% in patients vs. 46% in controls, P = 0.0357, OR = 1.525, %95 CI = 1.028–2.262). Also, the distribution of L allele in patients was significantly lower frequency in TB patients compared to controls (43.5% vs. 54%, P = 0.0357, OR = 0.656, %95 CI = 0.442–0.973). However, the allelic and genotypic frequencies of AB, XY and PQ polymorphisms were not significantly different between the patients and the controls. We couldn't detect any significant differences between haplotypes among TB patients and healthy controls.ConclusionsOur findings demonstrated that HH genotype and H allele may increase the susceptibility to pulmonary TB in the Lur population of Iran, although L allele may decrease the susceptibility to pulmonary TB in this population. We suggest that it is necessary to further more studies with larger sample size and other ethnic population.

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Polymorphisms in NRAMP1 and MBL2 genes and their relations with tuberculosis in Turkish children

Abstract: ÖZET Çocukluk çağı tüberkülozunda genetik yatkınlık

Cited by 15 publications

References 43 publications

Mannose-Binding Lectin Promoter Polymorphisms and Gene Variants in Pulmonary Tuberculosis Patients from Cantabria (Northern Spain)

Mannose-Binding Lectin Promoter Polymorphisms and Gene Variants in Pulmonary Tuberculosis Patients from Cantabria (Northern Spain)

Association of the Nramp1 gene polymorphisms and clinical forms in patients with tuberculosis

Mannose-Binding Lectin ( MBL ) gene polymorphisms in susceptibility to pulmonary tuberculosis among the Lur population of Lorestan Province of Iran

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