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. 

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 NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis

2010 ◽  
Vol 70 (4) ◽  
pp. 668-674 ◽  
Author(s):  
P Dieudé ◽  
M Guedj ◽  
J Wipff ◽  
B Ruiz ◽  
G Riemekasten ◽  
...  
Keyword(s):  
Innate Immunity ◽  
Systemic Sclerosis ◽  
Potential Role ◽  
Additive Model ◽  
Nucleotide Polymorphisms ◽  
Fibrosing Alveolitis ◽  
Single Nucleotide ◽  
Risk Alleles ◽  
Caucasian Origin

BackgroundRecent evidence has highlighted a potential role of interleukin 1β (IL-1β) in systemic sclerosis (SSc). NLRP1 provides a scaffold for the assembly of the inflammasome that promotes the processing and maturation of pro-IL-1β. In addition, NLRP1 variants were found to confer susceptibility to autoimmune disorders.ObjectiveTo study a possible association of the NLRP1 rs6502867, rs2670660 and rs8182352, rs12150220 and rs4790797 with SSc in the European Caucasian population.MethodsNLRP1 single nucleotide polymorphisms were genotyped in 3227 individuals comprising a discovery set (870 SSc patients and 962 controls) and a replication set including individuals from Germany (532 SSc patients and 324 controls) and Italy (527 SSc patients and 301 controls), all individuals being of European Caucasian origin.ResultsConditional analyses revealed a significant association for the NLRP1 rs8182352 variant with both anti-topoisomerase-positive and SSc-related fibrosing alveolitis (FA) subsets under an additive model: p=0.0042, OR 1.23 (95% CI 1.07 to 1.41) and p=0.0065 OR 1.19 (95% CI 1.05 to 1.36), respectively. Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.ConclusionsOur results establish NLRP1 as a new genetic susceptibility factor for SSc-related pulmonary fibrosis and anti-topoisomerase-positive SSc phenotypes. This provides new insights into the pathogenesis of SSc, underlining the potential role of innate immunity in particular in the FA-positive SSc subphenotype, which represents a severe subset of the disease.

scholarly journals Genetic Variants and Protein Alterations of Selenium- and T-2 Toxin-Responsive Genes Are Associated With Chondrocytic Damage in Endemic Osteoarthropathy

2022 ◽  
Vol 12 ◽  
Author(s):  
Yujie Ning ◽  
Minhan Hu ◽  
Jiayu Diao ◽  
Yi Gong ◽  
Ruitian Huang ◽  
...  
Keyword(s):  
Venous Blood ◽  
Additive Model ◽  
Significant Snps ◽  
Recessive Model ◽  
Healthy Controls ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Protein Alterations ◽  
New Evidence

The mechanism of environmental factors in Kashin–Beck disease (KBD) remains unknown. We aimed to identify single nucleotide polymorphisms (SNPs) and protein alterations of selenium- and T-2 toxin–responsive genes to provide new evidence of chondrocytic damage in KBD. This study sampled the cubital venous blood of 258 subjects including 129 sex-matched KBD patients and 129 healthy controls for SNP detection. We applied an additive model, a dominant model, and a recessive model to identify significant SNPs. We then used the Comparative Toxicogenomics Database (CTD) to select selenium- and T-2 toxin–responsive genes with the candidate SNP loci. Finally, immunohistochemistry was applied to verify the protein expression of candidate genes in knee cartilage obtained from 15 subjects including 5 KBD, 5 osteoarthritis (OA), and 5 healthy controls. Forty-nine SNPs were genotyped in the current study. The C allele of rs6494629 was less frequent in KBD than in the controls (OR = 0.63, p = 0.011). Based on the CTD database, PPARG, ADAM12, IL6, SMAD3, and TIMP2 were identified to interact with selenium, sodium selenite, and T-2 toxin. KBD was found to be significantly associated with rs12629751 of PPARG (additive model: OR = 0.46, p = 0.012; dominant model: OR = 0.45, p = 0.049; recessive model: OR = 0.18, p = 0.018), rs1871054 of ADAM12 (dominant model: OR = 2.19, p = 0.022), rs1800796 of IL6 (dominant model: OR = 0.30, p = 0.003), rs6494629 of SMAD3 (additive model: OR = 0.65, p = 0.019; dominant model: OR = 0.52, p = 0.012), and rs4789936 of TIMP2 (recessive model: OR = 5.90, p = 0.024). Immunohistochemistry verified significantly upregulated PPARG, ADAM12, SMAD3, and TIMP2 in KBD compared with OA and normal controls (p < 0.05). Genetic polymorphisms of PPARG, ADAM12, SMAD3, and TIMP2 may contribute to the risk of KBD. These genes could promote the pathogenesis of KBD by disturbing ECM homeostasis.

scholarly journals Association between Single Nucleotide Polymorphisms in Cardiovascular Developmental Critical Genes and Hypertension: A Propensity Score Matching Analysis

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Zhiqiang Zhao ◽  
Chunmei Gong ◽  
Yanfang Gao ◽  
Xiaoli Liu ◽  
Sai Wu ◽  
...  
Keyword(s):  
Propensity Score ◽  
Propensity Score Matching ◽  
Additive Model ◽  
Recessive Model ◽  
Cardiovascular Development ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Propensity Score Matching Analysis

Cardiovascular development critical genes are key determinants in cardiovascular diseases. We hypothesize that SNPs in these genes may play critical roles in the development of hypertension. Therefore, we enrolled 516 paired hypertension patients and controls in a total of 2,742 subjects in a cross-sectional population study by the propensity score matching (PSM) method. Twenty-one SNPs from 5 cardiovascular developmental related genes were detected by the improved multiplex ligase detection reaction (iMLDR) method. Conditioned logistic regression under three different genetic models, namely, additive model, dominant model, and recessive model, was performed. The odds ratio (ORs) and 95% confidence intervals (95% CIs) were used to estimate the associations of SNPs with hypertension. We found that the distribution of genotypes at rs833061, rs3025010, and rs699947 within the VEGFA gene and the distribution of alleles at rs3025010 in hypertension subjects were different from those in controls. Both rs833061 and rs3025010 were associated with hypertension in crude models, but only rs3025010 remains associated with hypertension after adjusting with confounding factors in the additive model and the dominant model. We also found that hypertension subjects with C/T and C/C genotypes at rs3025010 had lower SBP and DBP levels. In addition, rs3025010 could interact with rs6784267 within the CCM3 gene in the association. In conclusion, our findings suggest that rs3025010 may play a role in the pathogenesis of hypertension, which may be a potential target for individualized prevention and treatment of hypertension.

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 Search for associations between polymorphic variants of human acid chitinase gene and bronchial asthma in children of Novosibirsk

2022 ◽  
Vol 36 (4) ◽  
pp. 92-98
Author(s):  
S. I. Makarova ◽  
D. V. Mitrofanov ◽  
A. B. Shintyapina ◽  
E. G. Komova ◽  
V. V. Zelenskaya ◽  
...  
Keyword(s):  
Bronchial Asthma ◽  
Chitinase Gene ◽  
Nucleotide Polymorphisms ◽  
Fungal Cell ◽  
Single Nucleotide ◽  
High Prevalence ◽  
Human Acid ◽  
Polymorphic Variants ◽  
Asthma In Children

High prevalence of bronchial asthma among the population (about 300 million people all over the world) provides rationale for the search for candidate genes of disease. Human acidic chitinase (CHIA (AMCase)), encoded by the CHIA gene, is involved in the degradation of chitin, a component of the fungal cell wall and arthropod exoskeleton, which, if present in food or house dust, is a provoking factor for the bronchial asthma (BA) development. Functionally significant mutations in the CHIA gene may apparently increase the risk of susceptibility to BA.Aim. The aim of the study was to assess the associations of single nucleotide polymorphisms (SNPs) rs12033184 and rs3806448 in the CHIA gene with bronchial asthma in children in Novosibirsk.Material and Methods. The study was organized as case-control. A total of 537 blood samples were used. SNPs were determined by real-time PCR. The associations of polymorphic variants with the disease were assessed by the odds ratio.Results. No associations of rs12033184 and rs3806448 with BA were found.Conclusion. The role of acidic chitinase gene in the development of BA in residents of Novosibirsk was found to be less significant than in the Indian population where it was previously shown to be associated with the disease.

scholarly journals The KIAA0319 Gene Polymorphisms are Associated with Developmental Dyslexia in Chinese Uyghur Children

2015 ◽  
Author(s):  
Hua Zhao ◽  
Xiang Peng Zuo ◽  
Ping Bao Zhang ◽  
Yun Chen
Keyword(s):  
Developmental Dyslexia ◽  
Gene Polymorphisms ◽  
Additive Model ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Linkage Disequilibrium Analysis ◽  
Bonferroni Correction ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Uyghur Population

To investigate the association of KIAA0319 gene polymorphisms and developmental dyslexia in individuals of Uyghurian descent. Eighteen single nucleotide polymorphisms (SNP) of gene KIAA0319 were screened in a group of 196 patients with dyslexia and 196 controls of Uyghur descent by determined the genotypes using a custom-by-design 48-Plex SNPscan™ Kit. SAS 9.1.3 software were used for data analysis. Seven SNPs(Pmin=0.001) of KIAA0319 have significant differences between the cases and controls under specific genotype models. Especially for rs6935076(Padjusted=0.020 under dominant model;Padjusted=0.028 under additive model) and rs3756821(Padjusted=0.021 under additive model), which still associated with dyslexia after Bonferroni correction. The linkage disequilibrium analysis showed four block within gene KIAA0319 and only the ten-maker haplotype(P=0.013) in block 4 was significantly more common in dyslexia children than in controls. The results indicated that genetic polymorphisms of KIAA0319 are associated with increased risk of developmental dyslexia in Uyghur population.

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.

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