Association of a novel single nucleotide polymorphism in the human perforin gene with the outcome of HTLV-I infection in patients from Northeast Iran (Mash-had)

Rafatpanah, Houshang; Pravica, Vera; Farid, Reza; Abbaszadegan, Mohammed; Tabatabaei, Abbas; Goharjoo, Abbas; Etemadi, M M; Hutchinson, Ian V.

doi:10.1016/j.humimm.2004.05.006

Cited by 9 publications

(5 citation statements)

References 37 publications

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“…Genes associated previously with HAM/TSP in other populations such as IL6‐634 in Japan and Brazil [Nishimura et al, 2002; Gadelha et al, 2008] or Perforine 418 *C/T in Iran [Rafatpanah et al, 2004] were not replicated in the patients included in the current study despite the similar sample sizes. Additionally, no significant differences were found for IL10‐592 , which is in agreement with the results obtained in Brazil [Gadelha et al, 2008] and in contrast to the association found in Japan by Sabouri et al [2004].…”

Section: Discussionmentioning

confidence: 58%

Possible implication of NFKB1A and NKG2D genes in susceptibility to HTLV‐1‐associated myelopathy/tropical spastic paraparesis in Peruvian patients infected with HTLV‐1

Talledo

López

Huyghe

et al. 2011

Journal of Medical Virology

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The human T-cell lymphotropic virus type 1 (HTLV-1) is the etiological agent of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), a progressive disease causing paraparesis of the lower limbs. Only a minority of persons infected with HTLV-1 develop HAM/TSP. Universal susceptibility factors for HAM/TSP are not known. The viral genotype is similar in asymptomatic carriers and HAM/TSP patients. High proviral load has been associated consistently with HAM/TSP, but this factor does not explain fully the presence of disease in HTLV-1-infected subjects. Most likely, host genetic factors will play an important role in HAM/TSP development. A two-stage case-control study was carried out to evaluate the association between HAM/TSP and candidate single nucleotide polymorphisms (SNPs) from 45 genes in addition to six human leukocyte antigen (HLA) alleles. Ancestry-informative markers were used to correct for population stratification. Several SNPs belonging to NFKB1A and NKG2D showed a trend of association in both stages. The fact that the direction of the association observed in the first stage was the same in the second stage suggests that NFKB1A and NKG2D may be implicated in the development of HAM/TSP. Further replication studies in independent HTLV-1 patient groups should validate further these associations.

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Section: Discussionmentioning

confidence: 58%

Possible implication of NFKB1A and NKG2D genes in susceptibility to HTLV‐1‐associated myelopathy/tropical spastic paraparesis in Peruvian patients infected with HTLV‐1

Talledo

López

Huyghe

et al. 2011

Journal of Medical Virology

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“…However, Plancoulaine et al (2000) have obtained evidence for such an effect at the level of genetic linkage analysis: it is hoped that the genes responsible can be mapped and identified, to allow a deeper understanding of this interesting and potentially important effect. Rafatpanah et al (2004) have found a suggestive increase in the frequency of a single-nucleotide polymorphism at nt þ 418 in the perforin gene in patients with HAM/TSP, when compared with uninfected controls. However, there was no significant difference between HAM/TSP patients and asymptomatic carriers of HTLV-1 in the frequency of this polymorphism either at the allele or the genotype level.…”

Section: Crm Bangham and M Osamementioning

confidence: 91%

Cellular immune response to HTLV-1

2005

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There is strong evidence at the individual level and the population level that an efficient cytotoxic T lymphocyte (CTL) response to HTLV-1 limits the proviral load and the risk of associated inflammatory diseases such as HAM/TSP. This evidence comes from host population genetics, viral genetics, DNA expression microarrays and assays of lymphocyte function. However, until now there has been no satisfactory and rigorous means to define or to measure the efficiency of an antiviral CTL response. Recently, methods have been developed to quantify lymphocyte turnover rates in vivo and the efficiency of anti-HTLV-1 CTLs ex vivo. Data from these new techniques appear to substantiate the conclusion that variation between individual hosts in the rate at which a single CTL kills HTLV-1-infected lymphocytes is an important determinant, perhaps the decisive determinant, of the proviral load and the risk of HAM/ TSP. With these experimental data, it is becoming possible to refine, parameterize and test mathematical models of the immune control of HTLV-1, which are a necessary part of an understanding of this complex dynamic system.

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“…Unfortunately, it has no cure and no successful treatments have yet been reported; in cases with a high viral load, it has been related as an etiological agent of leukaemia ( Gotuzzo Herencia et al, 2010 ). A study in a Japanese population showed that the HLA-C*07:02 allele generates susceptibility to developing myelopathies associated with HTLV-1 while the C*08 allele protects the individual from suffering from these diseases even with the presence of the virus; despite this, the evidence suggests that there are other variants of HLA genes with an equal or more significant influence of this duality of susceptibility/resistance ( Jeffery et al, 1999 ; Rafatpanah et al, 2007 ; Penova et al, 2021 ).…”

Section: Related Pathologiesmentioning

confidence: 99%

“HLA-C: evolution, epigenetics, and pathological implications in the major histocompatibility complex”

et al. 2023

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HLA-C, a gene located within the major histocompatibility complex, has emerged as a prominent target in biomedical research due to its involvement in various diseases, including cancer and autoimmune disorders; even though its recent addition to the MHC, the interaction between HLA-C and KIR is crucial for immune responses, particularly in viral infections. This review provides an overview of the structure, origin, function, and pathological implications of HLA-C in the major histocompatibility complex. In the last decade, we systematically reviewed original publications from Pubmed, ScienceDirect, Scopus, and Google Scholar. Our findings reveal that genetic variations in HLA-C can determine susceptibility or resistance to certain diseases. However, the first four exons of HLA-C are particularly susceptible to epigenetic modifications, which can lead to gene silencing and alterations in immune function. These alterations can manifest in diseases such as alopecia areata and psoriasis and can also impact susceptibility to cancer and the effectiveness of cancer treatments. By comprehending the intricate interplay between genetic and epigenetic factors that regulate HLA-C expression, researchers may develop novel strategies for preventing and treating diseases associated with HLA-C dysregulation.

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Association of a novel single nucleotide polymorphism in the human perforin gene with the outcome of HTLV-I infection in patients from Northeast Iran (Mash-had)

Cited by 9 publications

References 37 publications

Possible implication of NFKB1A and NKG2D genes in susceptibility to HTLV‐1‐associated myelopathy/tropical spastic paraparesis in Peruvian patients infected with HTLV‐1

Possible implication of NFKB1A and NKG2D genes in susceptibility to HTLV‐1‐associated myelopathy/tropical spastic paraparesis in Peruvian patients infected with HTLV‐1

Cellular immune response to HTLV-1

“HLA-C: evolution, epigenetics, and pathological implications in the major histocompatibility complex”

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