scholarly journals Promoter Polymorphisms of the Canine SCL11A1 Gene are Correlated with Susceptibility to Canine Leishmaniosis

2020 ◽  
Vol 70 (3) ◽  
pp. 305-315
Author(s):  
Isaia Symeonidou ◽  
Styliani Pappa ◽  
Elias Papadopoulos ◽  
Chrysostomos I. Dovas ◽  
Andreas Kourelis ◽  
...  
Keyword(s):  
Immune Response ◽  
Canine Leishmaniosis ◽  
Nucleotide Polymorphisms ◽  
Solute Carrier Family ◽  
Promoter Polymorphisms ◽  
Single Nucleotide ◽  
Prevalence Estimates ◽  
Solute Carrier ◽  
Determining Factor

AbstractIn enzootic areas the prevalence estimates of canine leishmaniosis are high whereas only a proportion of dogs exhibit the clinical disease, thus implying a role of host genetics. The type of the triggered immune response remains a crucial determining factor for the diverse outcome of this parasitosis. The Solute Carrier Family 11 member 1 (SLC11A1) is a protein, which plays a central role in macrophage function and is implicated in the regulation of the immune response. An extended study with 73 resistant and 75 susceptible to Leishmania dogs was conducted. A fragment of the promoter region of the canine SLC11A1 gene was amplified and digested providing the different genotypes for three previously recorded single-nucleotide polymorphisms (SNPs) (SNP1 T151C, SNP2 Α180G, SNP3 G318A) for each animal. Statistical analyses revealed that SNP2 Α180G in heterozygosity (AG) as well as SNP3 G318A in homozygosity (AA) are correlated with susceptibility to canine leishmaniosis.

scholarly journals Association of two synonymous splicing-associated CpG single nucleotide polymorphisms in calpain 10 and solute carrier family 2 member 2 with type 2 diabetes

2016 ◽  
Vol 6 (2) ◽  
pp. 146-158 ◽  
Author(s):  
Maria Karambataki ◽  
Andigoni Malousi ◽  
Georgios Tzimagiorgis ◽  
Constantinos Haitoglou ◽  
Aikaterini Fragou ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Solute Carrier Family ◽  
Single Nucleotide ◽  
Calpain 10 ◽  
Solute Carrier

Single nucleotide polymorphisms in 5′-UTR of the SLC2A4 gene regulate solute carrier family 2 member 4 gene expression in visceral adipose tissue

Gene ◽  
2016 ◽  
Vol 576 (1) ◽  
pp. 499-504 ◽  
Author(s):  
Malgorzata Malodobra-Mazur ◽  
Dorota Bednarska-Chabowska ◽  
Robert Olewinski ◽  
Zygmunt Chmielecki ◽  
Rajmund Adamiec ◽  
...  
Keyword(s):  
Gene Expression ◽  
Adipose Tissue ◽  
Single Nucleotide Polymorphisms ◽  
Visceral Adipose Tissue ◽  
Nucleotide Polymorphisms ◽  
Solute Carrier Family ◽  
Single Nucleotide ◽  
Solute Carrier ◽  
Visceral Adipose

scholarly journals ASSOCIATION OF POLYMORPHISM RS6737848 IN THE SOCS5 GENE WITH BRONCHIAL ASTHMA

2013 ◽  
Vol 68 (7) ◽  
pp. 53-56
Author(s):  
I. V. Saltykova ◽  
M. B. Freidin ◽  
E. Yu. Bragina ◽  
L. M. Ogorodova ◽  
V. P. Puzyrev
Keyword(s):  
Immune Response ◽  
Length Polymorphism ◽  
Additive Model ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Restriction Fragments ◽  
Asthma Patients ◽  
Polymorphic Variants

Aim: to investigate the role of polymorphic variants of immune-response modifying genes in predisposition to asthma. Patients and methods. The analysis of restriction fragments length polymorphism was used to investigate 10 single-nucleotide polymorphisms: IFNG rs2069705, IFNGR2 rs17880053, IL4 rs 2070874, IL4RA rs 1805010, GATA3 rs10905277, TBX21 rs11652969, PIASY rs3760903, PIAS3 rs12756687, STAT5β rs16967593, and SOCS5 rs6737848 in 106 asthma patients and 115 healthy people. Results. The rs6737848 SOCS5 polymorphism was significantly associated with asthma in additive model (р =0,05, OR =0,338, 95%CI 0,158–0,723) and in dominant model (р =0,02, OR =0,284, CI 0,126–0,638). None of the polymorphisms of the studied genes was associated with total IgE levels. Conclusions. This is the first report on the association of rs6737848 SOCS5 with asthma. 

scholarly journals Effects of Lipopolysaccharide-Binding Protein (LBP) Single Nucleotide Polymorphism (SNP) in Infections, Inflammatory Diseases, Metabolic Disorders and Cancers

2021 ◽  
Vol 12 ◽  
Author(s):  
Leilei Meng ◽  
Zichen Song ◽  
Anding Liu ◽  
Uta Dahmen ◽  
Xiao Yang ◽  
...  
Keyword(s):  
Immune Response ◽  
Metabolic Disorders ◽  
Inflammatory Diseases ◽  
Binding Protein ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Main Component ◽  
The Impact ◽  
Lps Binding

Inflammation, which is induced by the immune response, is recognized as the driving factor in many diseases, including infections and inflammatory diseases, metabolic disorders and cancers. Genetic variations in pivotal genes associated with the immune response, particularly single nucleotide polymorphisms (SNPs), may account for predisposition and clinical outcome of diseases. Lipopolysaccharide (LPS)-binding protein (LBP) functions as an enhancer of the host response to LPS, the main component of the outer membrane of gram-native bacteria. Given the crucial role of LBP in inflammation, we will review the impact of SNPs in the LBP gene on infections and inflammatory diseases, metabolic disorders and cancers.

Association of genetic polymorphism of cytokines and antioxidant enzymes with the development of asbestosis

2020 ◽  
Vol 60 (12) ◽  
pp. 898-903
Author(s):  
Lyudmila P. Kuzmina ◽  
Anastasiya G. Khotuleva ◽  
Evgeniy V. Kovalevsky ◽  
Nikolay N. Anokhin ◽  
Iraklij M. Tskhomariya
Keyword(s):  
Antioxidant Enzymes ◽  
Genetic Polymorphism ◽  
Genetic Predisposition ◽  
Risk Groups ◽  
Dust Exposure ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Gstp1 Gene ◽  
Polymorphic Variants

Introduction. Various industries widely use chrysotile asbestos, which determines the relevance of research aimed at the prevention of asbestos-related diseases. It is promising to assess the role of specific genes, which products are potentially involved in the development and regulation of certain links in the pathogenesis of asbestosis, forming a genetic predisposition to the disease. The study aims to analyze the presence of associations of genetic polymorphism of cytokines and antioxidant enzymes with asbestosis development. Materials and methods. Groups were formed for examination among employees of OJSC "Uralasbest" with an established diagnosis of asbestosis and without lung diseases. For each person included in the study, dust exposure doses were calculated considering the percentage of time spent at the workplace during the shift for the entire work time. Genotyping of single nucleotide polymorphisms of cytokines IL1b (rs16944), IL4 (rs2243250), IL6 (rs1800795), TNFα (rs1800629) and antioxidant enzymes SOD2 (rs4880), GSTP1 (rs1610011), CAT (rs1001179) was carried out. Results. The authors revealed the associations of polymorphic variants A511G IL1b gene (OR=2.457, 95% CI=1.232-4.899) and C47T SOD2 gene (OR=1.705, 95% CI=1.055-2.756) with the development of asbestosis. There was an increase in the T allele IL4 gene (C589T) frequency in persons with asbestosis at lower values of dust exposure doses (OR=2.185, 95% CI=1.057-4.514). The study showed the associations of polymorphism C589T IL4 gene and C174G IL6 gene with more severe asbestosis, polymorphism A313G GSTP1 gene with pleural lesions in asbestosis. Conclusion. Polymorphic variants of the genes of cytokines and antioxidant enzymes, the protein products directly involved in the pathogenetic mechanisms of the formation of asbestosis, contribute to forming a genetic predisposition to the development and severe course of asbestosis. Using the identified genetic markers to identify risk groups for the development and intense period of asbestos-related pathology will optimize treatment and preventive measures, considering the organism's characteristics.

scholarly journals The role of 25-hydroxyvitamin-D3 and vitamin D receptor gene in human periodontal ligament fibroblasts as response to orthodontic compressive strain: an in vitro study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Erika Calvano Küchler ◽  
Agnes Schröder ◽  
Vinicius Broska Teodoro ◽  
Ute Nazet ◽  
Rafaela Scariot ◽  
...  
Keyword(s):  
Gene Expression ◽  
Vitamin D ◽  
Single Nucleotide Polymorphisms ◽  
Periodontal Ligament ◽  
Compressive Strain ◽  
Nucleotide Polymorphisms ◽  
Periodontal Ligament Fibroblasts ◽  
Single Nucleotide ◽  
Cox 2

Abstract Background This study aimed to investigate, if different physiological concentrations of vitamin D (25(OH)D3) and single nucleotide polymorphisms in vitamin D receptor (VDR) gene have an impact on gene expression in human periodontal ligament (hPDL) fibroblasts induced by simulated orthodontic compressive strain. Methods A pool of hPDL fibroblasts was treated in absence or presence of 25(OH)D3 in 3 different concentrations (10, 40 and 60 ng/ml). In order to evaluate the role of single nucleotide polymorphisms in the VDR gene, hPDL fibroblasts from 9 patients were used and treated in absence or presence of 40 ng/ml 25(OH)D3. Each experiment was performed with and without simulated orthodontic compressive strain. Real-time PCR was used for gene expression and allelic discrimination analysis. Relative expression of dehydrocholesterol reductase (DHCR7), Sec23 homolog A, amidohydrolase domain containing 1 (AMDHD1), vitamin D 25-hydroxylase (CYP2R1), Hydroxyvitamin D-1-α hydroxylase, receptor activator of nuclear factor-κB ligand (RANKL), osteoprotegerin (OPG), cyclooxygenase-2 (COX-2) and interleukin-6 (IL6) was assessed. Three single nucleotide polymorphisms in VDR were genotyped. Parametric or non-parametric tests were used with an alpha of 5%. Results RANKL, RANKL:OPG ratio, COX-2, IL-6, DHCR7, CYP2R1 and AMDHD1 were differentially expressed during simulated orthodontic compressive strain (p < 0.05). The RANKL:OPG ratio was downregulated by all concentrations (10 ng/ml, 40 ng/ml and 60 ng/ml) of 25(OH)D3 (mean = 0.96 ± 0.68, mean = 1.61 ± 0.66 and mean = 1.86 ± 0.78, respectively) in comparison to the control (mean 2.58 ± 1.16) (p < 0.05). CYP2R1 gene expression was statistically modulated by the different 25(OH)D3 concentrations applied (p = 0.008). Samples from individuals carrying the GG genotype in rs739837 presented lower VDR mRNA expression and samples from individuals carrying the CC genotype in rs7975232 presented higher VDR mRNA expression (p < 0.05). Conclusions Simulated orthodontic compressive strain and physiological concentrations of 25(OH)D3 seem to regulate the expression of orthodontic tooth movement and vitamin-D-related genes in periodontal ligament fibroblasts in the context of orthodontic compressive strain. Our study also suggests that single nucleotide polymorphisms in the VDR gene regulate VDR expression in periodontal ligament fibroblasts in the context of orthodontic compressive strain.

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