scholarly journals Relationship between interleukin-18-607C/A gene polymorphism and severity of enterovirus-71 encephalitis in Chinese children

2019 ◽  
Author(s):  
Jie Song ◽  
Yedan Liu ◽  
Zhenghai Qu ◽  
Ya Guo ◽  
Peipei Liu ◽  
...  
Keyword(s):  
Serum Concentration ◽  
Innate Immune System ◽  
Promoter Region ◽  
Enterovirus 71 ◽  
Innate Immune ◽  
Nucleotide Polymorphisms ◽  
Interleukin 18 ◽  
Single Nucleotide ◽  
Ifn Γ ◽  
Infectious Encephalitis

Abstract Background: Interleukin-18 (IL-18), a pro-inflammatory cytokine encoded by IL-18 and known as interferon (IFN)-γ inducing factor, plays an important role in the innate immune system. Single nucleotide polymorphisms (SNPs) of IL-18-607C/A have been reported to be associated with many infectious and immune-related diseases. However, there is no evidence of its association with enterovirus 71 (EV71)-infectious encephalitis. This study aimed to explore the association between the promoter region polymorphisms (-607C/A) of IL-18 and the severity of EV71 encephalitis in Chinese children.Methods: We analyzed the polymorphisms of IL-18-607C/A in 185 EV71-infected patients and 214 controls for genetic association research. Clinical features and auxiliary examination results were collected and compared in the cases. The serum concentration of IFN-γ was detected using enzyme-linked immunosorbent assays (ELISA). Results: The frequency of IL-18-607 AA genotype and allele in EV71-infected patients was significantly higher than that in the controls (32.4% vs 21.5%, P=0.042, 55.1% vs 46.0%, P=0.001). Furthermore, a difference was found in severe EV71 and mild encephalitis cases (53.0% vs 20.5%, P=0.003, 67.3% vs 50%, P=0.016). The serum concentration of IFN-γ in patients with encephalitis was much lower in AA genotypes (106.0±8.9 pg/mL) than in CA and CC genotypes (120.4±8.9 and 128.1±7.5 pg/mL, respectively, P<0.001). The duration of fever and blood glucose level was obviously higher in AA than in CA and CC genotypes.Conclusions: Children with IL-18-607AA genotype were more susceptible to developing severe EV71-associated encephalitis in this study in China.

Genetic polymorphisms within the human Toll-like receptor 2 subfamily

2007 ◽  
Vol 35 (6) ◽  
pp. 1445-1448 ◽  
Author(s):  
R.I. Tapping ◽  
K.O. Omueti ◽  
C.M. Johnson
Keyword(s):  
Infectious Disease ◽  
Innate Immune System ◽  
Purifying Selection ◽  
Innate Immune ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Selective Force ◽  
Single Nucleotide ◽  
Toll Like Receptor 2

Infectious disease is a formidable selective force in Nature as is evident from the complexity of immune systems across multicellular species. TLRs (Toll-like receptors) constitute central pattern-recognition molecules of the innate immune system that sense bacterial, viral, fungal, protozoan and helminth organisms and activate responses that provide immediate as well as long-term protection for the host. The present article reviews the function and evolution of vertebrate TLRs with an emphasis on the subfamily of receptors comprising human TLR1, 2, 6 and 10. The idea that TLRs undergo strong purifying selection provides the framework for the discussion of single nucleotide polymorphisms, many of which are associated with the incidence of infectious disease.

scholarly journals Study of the Relationship between Polymorphisms in the IL-8 Gene Promoter Region and Coccidiosis Resistance Index in Jinghai Yellow Chickens

Genes ◽  
2020 ◽  
Vol 11 (5) ◽  
pp. 476
Author(s):  
Xiao-Hui Wang ◽  
Hai-Liang Yu ◽  
Wen-Bin Zou ◽  
Chang-Hao Mi ◽  
Guo-Jun Dai ◽  
...  
Keyword(s):  
Promoter Region ◽  
Interleukin 2 ◽  
Gene Promoter ◽  
Resistance Index ◽  
Interferon Γ ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Ifn Γ ◽  
Gene Promoter Region

Interleukin 8 (IL-8) participates in the immune response and has the function of inducing neutrophils to release lysosomal enzymes and eliminate pathogens. This study was to investigate the effect of single nucleotide mutations in the IL-8 gene promoter region on the coccidiosis resistance index. In this study, 180 infected Eimeria tenella (E. tenella) Jinghai yellow chickens were used as experimental samples. DNA sequencing technology was used to detect single nucleotide polymorphisms (SNPs) in the IL-8 gene promoter region. The association between these SNPs and coccidiosis resistance indexes (including superoxide dismutase (SOD), malondialdehyde (MDA), glutathione peroxidase (GSH-PX), catalase (CAT), nitric oxide (NO), interleukin-1β (IL-1β), interleukin-2 (IL-2), interleukin-6 (IL-6), IL-8, and interferon-γ (IFN-γ)) were analyzed. Three SNPs (T-550C, G-398T, and T-360C) were detected. Significant associations were found between each genotype at the T-550C site with NO (p-value = 0.006) and IL-8 (p-value = 0.034) indexes. Significant associations were found between each genotype at the G-398T site with SOD (p-value = 0.042), CAT (p-value = 0.049), NO (p-value = 0.008), and IL-2 (p-value = 0.044) indexes. Significant associations were found between each genotype at the T-360C site with SOD (p-value = 0.007), NO (p-value = 0.046), IL-2 (p-value = 0.041), IL-8 (p-value = 0.039), and IFN-γ (p-value = 0.042) indexes. Haplotype analysis showed that multiple indexes of the H1H3 haplotype combination were significantly higher than other haplotype combinations. Therefore, mutation of the IL-8 gene promoter region has a significant regulatory effect on the coccidiosis resistance index, with a change in transcription factor binding potentially altering IL-8 gene expression, thereby further affecting the IL-8 level in plasma. However, the specific mechanism needs further study.

scholarly journals A multiparametric approach to improve the prediction of response to immunotherapy in patients with metastatic NSCLC

2020 ◽  
Author(s):  
Marzia Del Re ◽  
Federico Cucchiara ◽  
Eleonora Rofi ◽  
Lorenzo Fontanelli ◽  
Iacopo Petrini ◽  
...  
Keyword(s):  
Mutational Load ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Synonymous Mutations ◽  
Metastatic Nsclc ◽  
Molecular Determinants ◽  
Droplet Pcr ◽  
Ifn Γ ◽  
Nsclc Patients ◽  
Next Generation Sequencing Ngs

Abstract Background It is still unclear how to combine biomarkers to identify patients who will truly benefit from anti-PD-1 agents in NSCLC. This study investigates exosomal mRNA expression of PD-L1 and IFN-γ, PD-L1 polymorphisms, tumor mutational load (TML) in circulating cell-free DNA (cfDNA) and radiomic features as possible predictive markers of response to nivolumab and pembrolizumab in metastatic NSCLC patients. Methods Patients were enrolled and blood (12 ml) was collected at baseline before receiving anti-PD-1 therapy. Exosome-derived mRNA and cfDNA were extracted to analyse PD-L1 and IFN-γ expression and tumor mutational load (TML) by digital droplet PCR (ddPCR) and next-generation sequencing (NGS), respectively. The PD-L1 single nucleotide polymorphisms (SNPs) c.-14-368 T > C and c.*395G > C, were analysed on genomic DNA by Real-Time PCR. A radiomic analysis was performed on the QUIBIM Precision® V3.0 platform. Results Thirty-eight patients were enrolled. High baseline IFN-γ was independently associated with shorter median PFS (5.6 months vs. not reached p = 0.0057), and levels of PD-L1 showed an increase at 3 months vs. baseline in patients who progressed (p = 0.01). PD-L1 baseline levels showed significant direct and inverse relationships with radiomic features. Radiomic features also inversely correlated with PD-L1 expression in tumor tissue. In subjects receiving nivolumab, median PFS was shorter in carriers of c.*395GG vs. c.*395GC/CC genotype (2.3 months vs. not reached, p = 0.041). Lastly, responders had higher non-synonymous mutations and more links between co-occurring genetic somatic mutations and ARID1A alterations as well. Conclusions A combined multiparametric approach may provide a better understanding of the molecular determinants of response to immunotherapy.

Nucleotide variation in the ovine KRT31 promoter region and its association with variation in wool traits in Merino-cross lambs

2019 ◽  
Vol 157 (2) ◽  
pp. 182-188
Author(s):  
W. Chai ◽  
H. Zhou ◽  
H. Gong ◽  
J. Wang ◽  
Y. Luo ◽  
...  
Keyword(s):  
Promoter Region ◽  
Wool Fibre ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Banding Patterns ◽  
Keratin Gene ◽  
Single Stranded Conformational Polymorphism ◽  
Exon 1 ◽  
Polymerase Chain ◽  
Fleece Weight

AbstractKeratins are the main structural proteins of wool fibres, and it is thought that variation in the keratins may affect wool fibre characteristics. Polymerase chain reaction-single stranded conformational polymorphism (PCR-SSCP) analyses were used to investigate four regions of the ovine keratin gene KRT31 including a portion of the promoter, the exon 1, exon 3 and exon 7 regions. Initially, in a screening panel of 300 New Zealand Romney, Merino and White Dorper sheep obtained from 26 farms, three, two, two and two PCR-SSCP banding patterns were observed for these four regions, respectively. The promoter region, the exon 1 and exon 3 regions contained two single nucleotide polymorphisms (SNPs) and the exon 7 region contained one SNP. The effect of the variation found in the promoter region on wool traits was subsequently investigated in 485 Southdown × Merino-cross lambs from seven sire-lines. The three variants identified in the original 300 sheep (named A, B and C) were observed with frequencies of 56, 29 and 15%, respectively. The presence of A and B had no significant effect on wool traits, but the presence of C was found to be associated with an increase in greasy fleece weight (GFW), clean fleece weight (CFW) and mean staple length (MSL). There was an effect of genotype on CFW and MSL, with BC sheep producing wool of higher CFW and MSL than AA, AB, AC and BB sheep. These results suggest that ovine KRT31 might be a useful candidate gene for improving wool traits.

scholarly journals Characterization of Single-Nucleotide Polymorphisms in the Tumor Necrosis Factor α Promoter Region and in Lymphotoxin α in Squamous Intraepithelial Lesions, Precursors of Cervical Cancer

2011 ◽  
Vol 4 (6) ◽  
pp. 336-344 ◽  
Author(s):  
Miriam Enriqueta Nieves-Ramirez ◽  
Oswaldo Partida-Rodriguez ◽  
Pedro Eduardo Alegre-Crespo ◽  
Maria del Carmen Tapia-Lugo ◽  
Martha Esthela Perez-Rodriguez
Keyword(s):  
Promoter Region ◽  
Tumor Necrosis ◽  
Tumor Necrosis Factor Α ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Factor Α ◽  
Lymphotoxin Α ◽  
Intraepithelial Lesions ◽  
Necrosis Factor
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