Interferon-γ (IFNG) microsatellite repeat and single nucleotide polymorphism haplotypes of IFN-α receptor (IFNAR1) associated with enhanced malaria susceptibility in Indian populations

Kanchan, Kanika; Jha, Pankaj; Pati, Sudhanshu S.; Mohanty, Sanjib; Mishra, Saroj K.; Sharma, Surya K.; Awasthi, Sanjay; Venkatesh, Vimala; Habib, Saman

doi:10.1016/j.meegid.2014.10.030

Cited by 18 publications

(10 citation statements)

References 56 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Rs2843710, described as −568 C/G before, have been shown to be associated with susceptibility to chronic HBV infection 50 . And allele G of rs2843710 was associated with falciparum malaria manifestation in the endemic region 51 . Other variants in the promoter region of INFAR1 also related to the susceptibility of viruses infection.…”

Section: Discussionmentioning

confidence: 94%

A functional polymorphism in IFNAR1 gene is associated with susceptibility and severity of HFMD with EV71 infection

Zou

Zhang

Shao-yuan

et al. 2015

Sci Rep

View full text Add to dashboard Cite

Enterovirus 71 (EV71), one of the major pathogens of Hand, foot and mouth disease (HFMD), results in millions of infections and hundreds of deaths each year in Southeast Asia. Biased infection and variable clinical manifestations of EV71 HFMD indicated that host genetic background played an important role in the occurrence and development of the disease. We identified the mRNA profiles of EV71 HFMD patients, which type I interferon (IFN) pathway related genes were down-regulated. Four single nucleotide polymorphisms (SNPs) of type I IFN receptor 1 (IFNAR1) were chosen to analyze their relationships to EV71 infection. We found that genotype GG of promoter variant rs2843710 was associated with the susceptibility and severity to EV71 HFMD. In addition, we assessed the regulatory effects of rs2843710 to IFN stimulated genes (ISGs), and found that the expressions of IFNAR1, OAS1 and MX1 were significantly lower in patients with rs2843710 genotype GG. And rs2843710 allele G showed weaker transcriptional activity compared with allele C. Our study indicated that rs2843710 of IFNAR1 was associated with the susceptibility and severity of EV71 HFMD in Chinese Han populations, acting as a functional polymorphism by regulating ISGs expression, such as OAS1 and MX1.

show abstract

Section: Discussionmentioning

confidence: 94%

A functional polymorphism in IFNAR1 gene is associated with susceptibility and severity of HFMD with EV71 infection

Zou

Zhang

Shao-yuan

et al. 2015

Sci Rep

View full text Add to dashboard Cite

show abstract

“…IFNG gene polymorphisms have also been involved in asthma susceptibility, 13 , 14 , 34 infectious disease, 15 coronary artery disease, 16 autoimmune diseases, 17 , 18 , 35 and type I diabetes mellitus 36 in some genetic association studies. Kumar et al 13 first described a significant association of an intronic SNP of the IFNG gene with asthma and identified the association of rs1861494 A/G polymorphism with asthma, which may control the IFN-γ levels and thus modulate asthma pathogenesis.…”

Section: Discussionmentioning

confidence: 99%

“… 10 , 11 Recently, it was shown that IFN-γ was significantly increased in KD patients before IVIG treatment and the higher level of IFN-γ was associated with patients with CAL than those without CAL. 12 The IFNG , encoded IFN-γ, gene polymorphisms have been reported by various genetic association studies to also be implicated in asthma susceptibility, 13 , 14 infectious disease, 15 coronary artery disease 16 and autoimmune diseases. 17 , 18 Therefore, the aim of this study was to investigate in KD patients the correlation of IFNG gene polymorphisms and the plasma levels of IFN-γ and their outcomes.…”

Section: Introductionmentioning

confidence: 99%

Interferon-gamma Genetic Polymorphism and Expression in Kawasaki Disease

Huang

Hsu

et al. 2016

Medicine

View full text Add to dashboard Cite

Kawasaki disease (KD) is a systemic vasculitis of unknown etiology. IFNG gene encoding interferon (IFN)-γ, produced by natural killer cells and T cells, has been suggested to play an important role in the immunopathogenesis of Kawasaki disease. The aim of this study was to examin the correlation of gene polymorphisms of the IFNG gene and plasma levels of IFN-γ in KD patients and their outcomes.A total of 950 subjects (381 KD and 569 controls) were recruited. Three tagging single-nucleotide polymorphisms (rs2069718, rs1861493, rs2069705) were selected for TaqMan allelic discrimination assay. Clinical phenotypes, coronary artery lesions (CAL), coronary artery aneurysms (CAA) and intravenous immunoglobulin (IVIG) treatment outcomes were collected for analysis. Plasma IFN-γ levels were also measured with an enzyme-linked immunosorbent assay.Polymorphisms of the IFNG gene were significantly different between the normal controls and KD patients. The G allele of rs1861493 conferred a better response to IVIG treatment in KD patients. AA allele frequencies of rs1861493 were also associated with a significantly higher risk of CAA in KD patients. Furthermore, the plasma IFN-γ level was lower in the AA allele than in the GG allele of rs1861493 both before and after IVIG treatment in KD patients.This study provides the first evidence supporting an association between IFNG gene polymorphisms, susceptibility of KD, IVIG responsiveness, and plasma IFN-γ levels in KD patients.

show abstract

“…Numerous GWAS have demonstrated an association of IFNAR1 SNP rs2257167 with increased susceptibility to infection by hepatitis B virus (HBV) 36‐38 and malaria, 39‐41 progression of HIV to AIDS, 42 and risk of multiple sclerosis (MS) 43 and female vitiligo 44 . The SNP is also associated with increased risk of death from nonsmall cell lung cancer 45 and linked to severe pain in lung cancer patients 46 .…”

Section: Nonsynonymous Snps In Ifnar1 and Their Disease Associationsmentioning

confidence: 99%

Structural integrity with functional plasticity: what type I IFN receptor polymorphisms reveal

Weerd

Vivian

Lim

et al. 2020

Journal of Leukocyte Biology

View full text Add to dashboard Cite

The type I IFNs activate an array of signaling pathways, which are initiated after IFNs bind their cognate receptors, IFNα/β receptor (IFNAR)1 and IFNAR2. These signals contribute to many aspects of human health including defense against pathogens, cancer immunosurveillance, and regulation of inflammation. How these cytokines interact with their receptors influences the quality of these signals. As such, the integrity of receptor structure is pivotal to maintaining human health and the response to immune stimuli. This review brings together genome wide association studies and clinical reports describing the association of nonsynonymous IFNAR1 and IFNAR2 polymorphisms with clinical disease, including altered susceptibility to viral and bacterial pathogens, autoimmune diseases, cancer, and adverse reactions to live‐attenuated vaccines. We describe the amino acid substitutions or truncations induced by these polymorphisms and, using the knowledge of IFNAR conformational changes, IFNAR‐IFN interfaces and overall structure‐function relationship of the signaling complexes, we hypothesize the effect of these polymorphisms on receptor structure. That these predicted changes to IFNAR structure are associated with clinical manifestations of human disease, highlights the importance of IFNAR structural integrity to maintaining functional quality of these receptor‐mediated responses. Type I IFNs are pivotal to innate immune responses and ultimately, to human health. Understanding the consequences of altered structure on the actions of these clinically significant cell receptors provides important information on the roles of IFNARs in health and disease.

show abstract

Interferon-γ (IFNG) microsatellite repeat and single nucleotide polymorphism haplotypes of IFN-α receptor (IFNAR1) associated with enhanced malaria susceptibility in Indian populations

Cited by 18 publications

References 56 publications

A functional polymorphism in IFNAR1 gene is associated with susceptibility and severity of HFMD with EV71 infection

A functional polymorphism in IFNAR1 gene is associated with susceptibility and severity of HFMD with EV71 infection

Interferon-gamma Genetic Polymorphism and Expression in Kawasaki Disease

Structural integrity with functional plasticity: what type I IFN receptor polymorphisms reveal

Contact Info

Product

Resources

About