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 17 publications

(10 citation statements)

References 56 publications

(63 reference statements)

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“…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

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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.

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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

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“…The case-control panel comprised existing patient and control samples collected from a P. falciparum hyper-to mesoendemic region (Antagarh, Chhattisgarh and Sundargarh, Orissa) and a non-endemic region (Lucknow and surrounding areas of Uttar Pradesh) of India, as described previously [4,25,27]. The control panel comprised individuals ethnically matched with the patient group; these belonged to the Bhumij, Munda, Oraon, and Gond tribal populations in the endemic region and the Aggarwal, Brahmin, Kayastha, Pasi, Thakur, Yadav, Shia, and Sunni caste and religious groups in the nonendemic region.…”

Section: Populations and Study Subjectsmentioning

confidence: 99%

Polymorphisms in host genes encoding NOSII, C-reactive protein, and adhesion molecules thrombospondin and E-selectin are risk factors for Plasmodium falciparum malaria in India

Kanchan

Pati

Mohanty

et al. 2015

Eur J Clin Microbiol Infect Dis

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Cytoadherence of Plasmodium falciparum-infected red blood cells (RBCs) in host microvasculature and complex regulation of the immune response are important contributors to the clinical outcome of disease. We tested the association of 23 single nucleotide polymorphisms (SNPs) and a microsatellite repeat in adhesion molecule genes THBS1 and ESEL, and immune regulatory molecule genes NOSII, CRP, and MBL2 with falciparum malaria in populations residing in a malaria-endemic and a non-endemic region of India. The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. In the non-endemic region, an ESEL 3'UTR SNP (rs5359) associated with enhanced risk of disease (OR = 3.62, p = 1 × 10(-4)) and the CT genotype of the CRP promoter SNP (C/T/A) strongly associated with protection (severe vs. control, OR = 0.29, p = 6 × 10(-5)). Long repeat alleles of the NOSII promoter microsatellite (CCTTT)n exhibited strong association with protection and the NOSII ATG haplotype (rs3729508, rs2297520, rs9282801) was strongly protective against severe malaria in both regions (endemic, severe vs. control, OR = 0.05, p = 0.0001; non-endemic, severe vs. control, OR = 0.3, p = 1 × 10(-5)). Our results suggest differential contribution of variants of the investigated genes in determining the outcome of malaria in Indian populations.

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“…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

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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.

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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 17 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

Polymorphisms in host genes encoding NOSII, C-reactive protein, and adhesion molecules thrombospondin and E-selectin are risk factors for Plasmodium falciparum malaria in India

Interferon-gamma Genetic Polymorphism and Expression in Kawasaki Disease

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