An influence of Interferon-γ gene polymorphisms on treatment response to tuberculosis in Japanese population

Shibasaki, Masataka; Yagi, Tetsuya; Yatsuya, Hiroshi; Okamoto, Masakazu; Nishikawa, Mitsunori; Baba, Hisashi; Hashimoto, Naozumi; Senda, Kazuyoshi; Kawabe, Tsutomu; Nakashima, Kiyotaka; Imaizumi, Kazuyoshi; Shimokata, Kaoru; Hasegawa, Yoshinori

doi:10.1016/j.jinf.2009.04.002

Cited by 10 publications

(6 citation statements)

References 12 publications

(8 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Indeed, four of 56 patients with the IFNG + 874 AA genotype (7.1%) had not achieved culture negativity at 3 months. This study indicates that the presence or absence of this polymorphism could provide useful information on public health decisions, such as the duration of patient isolation as well as the clinical course of treated TB patients 85 …”

Section: Interferon‐γ and Its Receptorsmentioning

confidence: 84%

“…So far, the major target of genetic studies on TB patients has been to elucidate the immunopathogenesis of TB through the research focused on the human genes associated with susceptibility to or the clinical manifestation of TB. However, researchers began to widen the scope to more practical fields, such as VDR gene polymorphisms associated with sputum culture and auramine stain conversion during anti‐TB treatment, 163 association of IFNG + 874 AA genotype with a lower likelihood of sputum conversion, 85 as well as genetic trait associated with the response to Bacillus Calmette‐Guérin vaccination 209 or anti‐TB drug‐induced hepatitis 210 . In fact, IFN‐γ treatment or bone marrow transplantation were successfully used in patients with disseminated non‐tuberculous mycobacterial infection, based on knowledge of the genetic mutations of specific patients 211 .…”

Section: Discussionmentioning

confidence: 99%

“…This study indicates that the presence or absence of this polymorphism could provide useful information on public health decisions, such as the duration of patient isolation as well as the clinical course of treated TB patients. 85…”

Section: Interferon-g and Its Receptorsmentioning

confidence: 99%

See 2 more Smart Citations

Genetic susceptibility in tuberculosis

2010

View full text Add to dashboard Cite

The importance of host genetic factors in determining susceptibility to tuberculosis (TB) has been studied extensively using various methods, such as case-control, candidate gene and genome-wide linkage studies. Several important candidate genes like human leucocyte antigen/alleles and non-human leucocyte antigen genes, such as cytokines and their receptors, 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), solute carrier family 11A member 1 (formerly known as natural resistance-associated macrophage protein 1) and purinergic P2X7 receptor gene polymorphisms, have been associated with differential susceptibility to TB in various ethnic populations. This heterogeneity has been explained by host-pathogen and gene-environment interactions and evolutionary selection pressures. Although the achievements of genetics studies might not yet have advanced the prevention and treatment of TB, researchers have begun to widen their scope of investigation to encompass these practical considerations.

show abstract

Section: Interferon‐γ and Its Receptorsmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Genetic susceptibility in tuberculosis

2010

View full text Add to dashboard Cite

show abstract

“…A meta‐analysis performed on this particular SNP indicated a significant protection conferred by the T allele, to tuberculosis in different population groups (Pacheco et al , 2008). The +874 T allele provides a binding site for nuclear factor‐κB, the transcription factor that induces IFN‐γ expression, and the +874 AA genotype was predictive of a lower likelihood of sputum conversion in Japanese patients (Shibasaki et al , 2009).…”

Section: The Present: Linkage Association and Interaction Studiesmentioning

confidence: 99%

Past, present and future directions in human genetic susceptibility to tuberculosis

Möller

Wit

Hoal

2010

FEMS Immunology &Amp; Medical Microbiology

114

View full text Add to dashboard Cite

The historical impression that tuberculosis was an inherited disorder has come full circle and substantial evidence now exists of the human genetic contribution to susceptibility to tuberculosis. This evidence has come from several whole-genome linkage scans, and numerous case-control association studies where the candidate genes were derived from the genome screens, animal models and hypotheses pertaining to the disease pathways. Although many of the associated genes have not been validated in all studies, the list of those that have been is growing, and includes NRAMP1, IFNG, NOS2A, MBL, VDR and some TLR. Certain of these genes have consistently been associated with tuberculosis in diverse populations. The future investigation of susceptibility to tuberculosis is almost certain to include genome-wide association studies, admixture mapping and the search for rare variants and epigenetic mechanisms. The genetic identification of more vulnerable individuals is expected to inform personalized treatment and perhaps vaccination strategies.

show abstract

“…The functional +874A→T single nucleotide polymorphism (SNP), a common variant in the IFNG gene, has been associated with TB in the South African Coloured population (SAC) [24] and various others [25] and even appears to be clinically relevant in sputum conversion in patients [26]. However, since TB is a complex disease and several genes are involved in its pathogenesis, it is possible that genes regulating IFN-γ levels could also contain variants contributing to susceptibility.…”

Section: Introductionmentioning

confidence: 99%

Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study

et al. 2010

View full text Add to dashboard Cite

BackgroundInterferon gamma is a major macrophage-activating cytokine during infection with Mycobacterium tuberculosis, the causative pathogen of tuberculosis, and its role has been well established in animal models and in humans. This cytokine is produced by activated T helper 1 cells, which can best deal with intracellular pathogens such as M. tuberculosis. Based on the hypothesis that genes which regulate interferon gamma may influence tuberculosis susceptibility, we investigated polymorphisms in eight candidate genes.MethodsFifty-four polymorphisms in eight candidate genes were genotyped in over 800 tuberculosis cases and healthy controls in a population-based case-control association study in a South African population. Genotyping methods used included the SNPlex Genotyping System™, capillary electrophoresis of fluorescently labelled PCR products, TaqMan® SNP genotyping assays or the amplification mutation refraction system. Single polymorphisms as well as haplotypes of the variants were tested for association with TB using statistical analyses.ResultsA haplotype in interleukin 12B was nominally associated with tuberculosis (p = 0.02), but after permutation testing, done to assess the significance for the entire analysis, this was not globally significant. In addition a novel allele was found for the interleukin 12B D5S2941 microsatellite.ConclusionsThis study highlights the importance of using larger sample sizes when attempting validation of previously reported genetic associations. Initial studies may be false positives or may propose a stronger genetic effect than subsequently found to be the case.

show abstract

An influence of Interferon-γ gene polymorphisms on treatment response to tuberculosis in Japanese population

Cited by 10 publications

References 12 publications

Genetic susceptibility in tuberculosis

Genetic susceptibility in tuberculosis

Past, present and future directions in human genetic susceptibility to tuberculosis

Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study

Contact Info

Product

Resources

About