Genetic polymorphisms in vitamin D receptor, vitamin D-binding protein, Toll-like receptor 2, nitric oxide synthase 2, and interferon-γ genes and its association with susceptibility to tuberculosis

Leandro, Ana C; Rocha, M.A.; Cardoso, Cláudia; Bonecini-Almeida, Maria da Glória

doi:10.1590/s0100-879x2009000400002

Cited by 41 publications

(32 citation statements)

References 55 publications

(60 reference statements)

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“…The most consistent results were obtained with some HLA class II genes, and NRAMP1 (natural resistance associated macrophage protein I) / SLC11A1 (solute carrier family 11 member 1) [12,45]. Other genes shown to be involved in this process were the vitamin D receptor [46], SP110, the human homologue of the mouse gene Iprl (intracellular pathogen resistance 1) [47], genes for cytokines and their receptors [48], chemokines and their receptors, pattern recognition receptors (including toll-like receptors, mannose binding lectin and the dendritic cell-specific intercellular adhesion molecule-3 grabbing nonintegrin), and purinergic P2X7 receptor gene polymorphisms [49]. The overall effect described for these genes on susceptibility to disease is weak, and it is clear that susceptibility is also affected by other, as yet undiscovered loci.…”

Section: Mycobacterium Tuberculosissupporting

confidence: 58%

Infectious disease — a genetic view

Jarošíková

2011

Open Life Sciences

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Genetic analysis of resistance to infectious disease reveals many important cues that have led to new insights into the interaction between pathogen and host. This knowledge might help with a better prognosis for diseases, and to the development of novel therapeutics. This review focuses on genes and loci that control susceptibility to diseases with an important epidemiologic impact, such as AIDS, hepatitis B, gastritis and peptic ulcer, tuberculosis, leprosy, malaria, schistosomiasis and leishmaniasis. New perspectives for the integration of human and mouse genetics that contribute greatly to our understanding of regulatory mechanisms in health and disease, are also discussed.

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Section: Mycobacterium Tuberculosissupporting

confidence: 58%

Infectious disease — a genetic view

Jarošíková

2011

Open Life Sciences

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“…haplotypes and estimated prevalence (%) in Type 2 diabetes mellitus patients and healthy subjects Our current study is also an effort to further understand the association of VDR polymorphisms with T2DM. Out of all the four common VDR polymorphisms, FokI polymorphism located in the 5'end near the promoter region of the VDR gene, it is proposed to attenuate the Vitamin D function as well as its binding efficiency to the VDR [35] and further affects the insulin action leading to the diabetic phenotype [30]. In our study, T2DM patients are found to be significantly associated with the FokI polymorphisms (p<0.001).…”

Section: Discussionmentioning

confidence: 52%

Vitamin D Receptor Gene Polymorphisms and Haplotype Analysis in Type 2 Diabetes Mellitus Patients From North India

Taneja

Khadgawat

Mani

2017

Asian J Pharm Clin Res

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Objective: Vitamin D receptor (VDR) mediated Vitamin D signaling is important for expression of insulin gene and glucose transporters, which help in glucose uptake by cells. Current evidence suggests that four common polymorphisms (FokI, BsmI, ApaI, TaqI) of VDR gene are associated with Type 2 diabetes mellitus (T2DM) in different populations. However, there is a scarcity of data on VDR polymorphisms from Indian population.Methods: In the current study, total genomic DNA was isolated from 100 well-characterized T2DM patients and 100 healthy controls. We investigated the prevalence of FokI and ApaI polymorphisms in VDR gene of these patients by polymerase chain reaction-restriction fragment length polymorphismbased method. Taking help of our previous published data on TaqI and BsmI polymorphisms in same patients, the haplotype study was also conducted. Statistical analysis of data was performed using SPSS 21.0 software. Haplotype and linkage disequilibrium analysis was performed by Haploview software.Results: Both the wild (TT) and mutant (CC) genotype of FokI polymorphism showed a significant difference between patients and controls (p<0.001 and p<0.001, respectively). The frequency of mutant allele (C) was also significantly higher in T2DM patients than the controls (p<0.001). In case of ApaI, frequency of wild (GG) and mutant (CC) genotype was significantly different in patients and controls (p=0.017 and p=0.034). As per haplotype analysis, the CACT haplotype was predicted to be of significance in patients and consists of mutant alleles of three polymorphisms (FokI, BsmI, ApaI). Conclusion:Our study supports the association of FokI and ApaI polymorphism in T2DM. The haplotype analysis also indicates that the combinations of mutant allele of different VDR polymorphisms are probably responsible for increased susceptibility of these individuals toward T2DM.

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“…22 Upon exposure, only 10% of the population will develop the disease and it is estimated that one third of the global population is infected with M. tuberculosis. 23 The ability of M. tuberculosis to determine successful infection and disease in such a small group of subjects depends on its virulence factors and the genetic background of the host, which, combined, will ultimately determine the ability of the microorganism to evade immune response. 24 Immune defense against M. tuberculosis is complex and involves an interaction between CD4+ and CD8+ T lymphocytes and macrophages, along with the production of cytokines such as interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α).…”

Section: Cutaneous Tuberculosis and Other Mycobacteriosismentioning

confidence: 99%

“…Several candidate genes have been investigated in different populations, some of them presenting variants showing strong association with the disease, such as HLA genes, Interferon Gamma (IFNG), Natural Resistance Associated Macrophage Protein 1 (NRAMP1 or SCL11A1), TLR2 and the Vitamin D Receptor (VDR). 23,[26][27][28][29][30][31][32][33][34][35][36][37][38] Cutaneous tuberculosis is a rare form of extra pulmonary disease that affects 1 to 4% of the total cases of TB. 39,40 Cutaneous TB occurs more often in children, intravenous drug users and individuals under immunosuppressive therapy, as well as individuals affected by HIV/AIDS, diabetes mellitus, cancer and end-stage renal disease.…”

Section: Cutaneous Tuberculosis and Other Mycobacteriosismentioning

confidence: 99%

Genetic risk factors for human susceptibility to infections of relevance in dermatology

Sardinha

Tarlé

Fava

et al. 2011

An. Bras. Dermatol.

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BACKGROUND: In the pre-microbiological era, it was widely accepted that diseases, today known to be infectious, were hereditary. With the discovery of microorganisms and their role in the pathogenesis of several diseases, it was suggested that exposure to the pathogen was enough to explain infection. Nowadays, it is clear that infection is the result of a complex interplay between pathogen and host, therefore dependant on the genetic make-up of the two organisms. Dermatology offers several examples of infectious diseases in different stages of understanding of their molecular basis. In this review, we summarize the main advances towards dissecting the genetic component controlling human susceptibility to infectious diseases of interest in dermatology. Widely investigated diseases such as leprosy and leishmaniasis are discussed from the genetic perspective of both host and pathogen. Others, such as rare mycobacterioses, fungal infections and syphilis, are presented as good opportunities for research in the field of genetics of infection. Keywords: Dermatology; Infection; Polymorphism, genetic Resumo: INTRODUÇÃO: Durante a era pré-microbiológica, era comum a visão de que doenças, hoje sabidamente infecciosas, eram hereditárias. Com a descoberta dos microorganismos e seu papel na patogênese de diversas patologias, chegou-se a propor que a exposição ao patógeno era condição suficiente para explicar infecção. Hoje, está claro que infecção é o resultado de uma complexa interação entre patógeno e hospedeiro, dependendo portanto, em última análise, do make-up genético de ambos os organismos. A dermatologia oferece diversos exemplos de doenças infecciosas em diferentes graus de entendimento de suas bases moleculares. Nesta revisão, resumimos os principais avanços na direção da dissecção do componente genético controlando suscetibilidade do ser humano a doenças infecciosas de importância na dermatologia. Doenças amplamente estudadas, como a hanseníase e a leishmaniose, são discutidas sob o ponto de vista da genética tanto do hospedeiro quanto do patógeno. Outras, como micobacterioses raras, micoses e sífilis, são apresentadas como boas oportunidades para pesquisa na área de genética de infecção.

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Genetic polymorphisms in vitamin D receptor, vitamin D-binding protein, Toll-like receptor 2, nitric oxide synthase 2, and interferon-γ genes and its association with susceptibility to tuberculosis

Cited by 41 publications

References 55 publications

Infectious disease — a genetic view

Infectious disease — a genetic view

Vitamin D Receptor Gene Polymorphisms and Haplotype Analysis in Type 2 Diabetes Mellitus Patients From North India

Genetic risk factors for human susceptibility to infections of relevance in dermatology

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