Evaluation of all non-synonymous single nucleotide polymorphisms (SNPs) in the genes encoding human deoxyribonuclease I and I-like 3 as a functional SNP potentially implicated in autoimmunity

FEBS Journal ◽  
2013 ◽  
Vol 281 (1) ◽  
pp. 376-390 ◽  
Author(s):  
Misuzu Ueki ◽  
Kaori Kimura-Kataoka ◽  
Haruo Takeshita ◽  
Junko Fujihara ◽  
Reiko Iida ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Deoxyribonuclease I ◽  
Genes Encoding ◽  
Functional Snp

Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes

2010 ◽  
Vol 31 (21) ◽  
pp. 3552-3557 ◽  
Author(s):  
Junko Fujihara ◽  
Toshihiro Yasuda ◽  
Reiko Iida ◽  
Kaori Kimura-Kataoka ◽  
Mikiko Soejima ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Global Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Deoxyribonuclease I

scholarly journals Cytokine Expression Patterns and Single Nucleotide Polymorphisms (SNPs) in Patients with Chronic Borreliosis

Antibiotics ◽  
2019 ◽  
Vol 8 (3) ◽  
pp. 107 ◽  
Author(s):  
Hein ◽  
Sander ◽  
Giryes ◽  
Reinhardt ◽  
Hoegel ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Lyme Borreliosis ◽  
Neurological Diseases ◽  
Expression Patterns ◽  
Infectious Complications ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Plasma Cytokines ◽  
Group 2 ◽  
Functional Snp

(1) Background: Genetically based hyperinflammation may play a role in pathogen defense. We here questioned whether alterations in circulating monocytes/macrophages, inflammatory biomarkers and a functional SNP (single nucleotide polymorphisms) of the Interleukin-6 (IL-6) promotor might play a role in patients with persistent, and treatment resistant borreliosis. (2) Methods: Leukocyte subpopulations were studied by flow cytometry; plasma cytokines were determined by a chemiluminescence based ELISA (Immulite®), and genotypes of the IL-6 promotor SNP rs1800795 were determined by pyrosequencing. (3) Results: In a cohort of n = 107 Lyme borreliosis patients, who concomitantly manifested either malignant diseases (group 1), autoimmune disorders (group 2), neurological diseases (group 3), or morbidities caused by multiple other infectious complications (group 4), we found decreased numbers of anti-inflammatory CD163-positive macrophages, elevated concentrations of inflammatory cytokines, and an imbalance of IL-6 promotor SNP rs1800795 genotypes. The most prominently upregulated cytokines were IL-1β, and IL-8. (4) Conclusions: Increased pro-inflammatory phenotypes identified by monocyte/macrophage subtypes and concomitantly increased cytokines appear to be valid to monitor disease activity in patients with persistent Lyme borreliosis. Patterns may vary by additional co-morbidities. In patients with autoimmune diseases, increased frequencies of a heterozygous IL-6 promotor SNP rs1800795 were identified. This functional SNP may guide chronic inflammation, impacting other cytokines to trigger trigger chronicity and therapeutic resistance in Lyme borreliosis.

Genetic and expression analysis of all non-synonymous single nucleotide polymorphisms in the human deoxyribonuclease I-like 1 and 2 genes

2010 ◽  
Vol 31 (12) ◽  
pp. 2063-2069 ◽  
Author(s):  
Misuzu Ueki ◽  
Junko Fujihara ◽  
Haruo Takeshita ◽  
Kaori Kimura-Kataoka ◽  
Reiko Iida ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Expression Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Deoxyribonuclease I

scholarly journals Single Nucleotide Polymorphisms Associated with Methotrexate-induced Nausea in Juvenile Idiopathic Arthritis

2021 ◽  
Author(s):  
Nini Kyvsgaard ◽  
Torben Stamm Mikkelsen ◽  
Thomas D. Als ◽  
Anne Estmann Christensen ◽  
Thomas J. Corydon ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Single Nucleotide Polymorphisms ◽  
Snp Analysis ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Minor Alleles ◽  
Genes Encoding ◽  
Metabolizing Enzyme ◽  
The Impact

Abstract BackgroundContext: Methotrexate (MTX) is a cornerstone in the treatment of juvenile idiopathic arthritis (JIA). MTX treatment is commonly associated with nausea. Large inter-individual variation exists in the level of MTX-induced nausea, possibly due to genetic factors. Purpose: To investigate whether MTX-induced nausea was associated with single nucleotide polymorphisms (SNPs) in genes encoding MTX-transporter proteins, a MTX metabolizing enzyme and a nausea receptor.FindingsMethods: Children aged ≥9 years treated with MTX for JIA were eligible. MTX-induced nausea was registered by the children’s completion of a nausea diary (min. 7 days) and the parents’ completion of the MTX intolerance severity score (MISS). The selected SNPs were: SLCO1B1 (rs4149056; rs4149081), SLCO1B3 (rs2117032), SLC19A1 (rs1051266), ABCC2 (rs2273697; rs3740066; rs717620), ABCB1 (rs2032582; rs1045642), MTHFR (rs1801131, rs1801133), HTR3A (rs1062613; rs1985242; rs1176713) and HTR3B (rs1176744). Results: Enrolled were 121 JIA patients (82 girls: 39 boys) with a median age of 13.3 years (IQR: 11.3-15.1). The median MTX dose was 9.7 mg/m2/week (IQR: 9.0-10.9). The median MTX treatment duration prior to enrolment was 340 days (IQR: 142-766). The SNP analysis was available for 119 patients. MTX intolerance was associated with the genotype distribution of rs1801133 (MTHFR) (p= 0.02). There was no additive effect of the minor alleles for any of the selected SNPs, nor any significant haplotype associations. Conclusion Summary: MTX-induced nausea may be influenced by genetic polymorphisms in a MTX metabolizing enzyme (rs1801133; MTHFR). Implications: Further analyses involving inclusion of larger cohorts are needed to understand the impact of SNPs on MTX-induced nausea in JIA.

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