Polymorphisms in cytokine genes define subpopulations of HIV-1 patients who experienced immune restoration diseases

Price, Patricia; Morahan, Grant; Huang, Dexing; Stone, Emma L.; Cheong, Karey; Castley, Alison; Rodgers, Marina; Mcintyre, M.Q.; Abraham, Lawrence J.; French, Martyn

doi:10.1097/00002030-200210180-00009

Cited by 152 publications

(114 citation statements)

References 17 publications

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“…10 BAT1intron10*2 (rs9281523) is a tag SNP for FV16 in Northern Indians, Australian Aborigines, South-East Asians and Europeans. However, carriage of TNF-308*2 without BAT1intron10*2 has been observed earlier 11 and was characterised here as FV15 and FV17. NFKBIL1-62 (rs2071592) is associated with susceptibility to rheuma-toid arthritis 12 and lies in FV16 and six other haplotypes, so typing this SNP provides little information.…”

Section: Discussionsupporting

confidence: 59%

The evolution and diversity of TNF block haplotypes in European, Asian and Australian Aboriginal populations

et al. 2009

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The region spanning the tumour necrosis factor (TNF) cluster in the human major histocompatibility complex is implicated in susceptibility to immunopathological disease, but ethnic differences and linkage disequilibrium have hampered identification of critical polymorphisms. Here, we investigate Europeans, Asians (Bidayuh, Chinese, Indian, Jehai, Malay, Temuan) and Australian Aborigines to provide a framework for disease-association studies. DNA from 999 unrelated healthy donors was genotyped at 38 loci, primarily in coding and promoter regions over a 60-kb region spanning seven genes near TNF. The PHASE algorithm was used to statistically infer TNF block haplotypes and estimate their frequencies in each population. The TNF block is carried as 31 haplotypes in all populations combined, with o19 in any single population. Only six haplotypes have a unique tag single nucleotide polymorphism (SNP) valid for all populations, but seven haplotypes could be tagged with individual SNPs in selected populations. Four to eight TNF block haplotypes exist across all ethnicities, and hence must predate the divergence of these populations from a common ancestor 4160 000 years ago. Some haplotypes are unique to isolated populations, but they do not contain unique SNP. Hence, they reflect restricted migration and/or extinction of some families rather than de novo mutation.

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Section: Discussionsupporting

confidence: 59%

The evolution and diversity of TNF block haplotypes in European, Asian and Australian Aboriginal populations

et al. 2009

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“…Expression of proinflammatory cytokines such as interleukin (IL)-6, as well as certain cytokine polymorphisms such as tumor necrosis factor !-308*2, may be greater in the subpopulation of HIV-infected patients who develop IRIS. 43,44 Additionally, an anti-inflammatory cytokine polymorphism in the IL-12B gene has been negatively associated with non-CNS herpes-associated IRIS. 44 Pathophysiology Given the range of IRIS cases reported in the literature, the picture that has emerged is not of a unifying IRIS physiology but rather a myriad of diverse clinical, radiologic, and immunologic syndromes that likely encompass multiple disease mechanisms.…”

Section: Epidemiology and Risk Factorsmentioning

confidence: 99%

Neurologic Complications of HIV-1 Infection and Its Treatment in the Era of Antiretroviral Therapy

Kranick

Nath²

2012

CONTINUUM: Lifelong Learning in Neurology

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“…63,64 Other risk factors include the duration and extent of immunodeficiency, polymorphisms in cytokine genes, 65 high initial viral load, and the velocity of immune reconstitution. 66 No difference in the risk of developing IRIS has been observed when comparing different drug regimens.…”

Section: Iris and Nirismentioning

confidence: 99%

JC Virus Infection of the Brain

Bag¹,

Curé²,

Chapman³

et al. 2010

AJNR Am J Neuroradiol

115

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SUMMARY:Since its initial description, there have been significant changes in the epidemiology, pathogenesis, and clinical and imaging manifestations of JCV infection of brain. The most common clinical manifestation is PML. Other recently described CNS manifestations are JCE, JCVGCN, and JCM. Although AIDS is the most common predisposing factor for JCV reactivation, there is increasing incidence of brain manifestations of JCV reactivation in non-HIV settings, including different rheumatologic, hematologic, and oncologic conditions; monoclonal antibody therapy; transplant recipients; primary immunodeficiency syndromes; and even in patients without any recognizable immune deficiency. IRIS may develop secondary to restoration of immunity in HIV-positive patients with PML receiving antiretroviral therapy. This is of profound clinical significance and needs to be diagnosed promptly. Imaging plays a crucial role in the diagnosis of the disease, monitoring of treatment response, identifying disease progression, and predicting prognosis. In this article, current understanding of the epidemiology, pathogenesis, clinical presentations, and all aspects of imaging of JCV infection of the brain have been comprehensively reviewed.ABBREVIATIONS: ADC ϭ apparent diffusion coefficient; CNS ϭ central nervous system; cPML ϭ classic PML; Cr ϭ creatine; CTL ϭ cytotoxic T-lymphocytes; DWI ϭ diffusion-weighted imaging; FLAIR ϭ fluid-attenuated inversion recovery; HAART ϭ highly active antiretroviral therapy; HIV ϭ human immunodeficiency virus; ICL ϭ idiopathic CD4 lymphocytopenia; iPML ϭ inflammatory PML; IRIS ϭ immune reconstitution inflammatory syndrome; JCE ϭ JCV encephalopathy; JCM ϭ JCV meningitis; JCV ϭ JC virus; JCVGCN ϭ JCV granular cell neuronopathy; mAb ϭ monoclonal antibody; mIns ϭ myo-inositol; MS ϭ multiple sclerosis; MTR ϭ magnetization transfer ratio; NAA ϭ N-acetylaspartate; NIRIS ϭ neuro-IRIS; PCR ϭ polymerase chain reaction; PML ϭ progressive multifocal leukoencephalopathy; PML-IRIS ϭ PML associated with IRIS; RR ϭregulatory region; SLE ϭ systemic lupus erythematosus

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Polymorphisms in cytokine genes define subpopulations of HIV-1 patients who experienced immune restoration diseases

Abstract: Distinct cytokine-mediated mechanisms contribute to IRD initiated by herpesvirus and mycobacterial infections.

Cited by 152 publications

References 17 publications

The evolution and diversity of TNF block haplotypes in European, Asian and Australian Aboriginal populations

The evolution and diversity of TNF block haplotypes in European, Asian and Australian Aboriginal populations

Neurologic Complications of HIV-1 Infection and Its Treatment in the Era of Antiretroviral Therapy

JC Virus Infection of the Brain

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