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Cytokine gene polymorphism

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https://www.readbyqxmd.com/read/27918954/interleukin-10-role-in-increasing-susceptibility-and-pathogenesis-of-rheumatic-fever-rheumatic-heart-disease
#1
REVIEW
Neha Sharma, Devinder Toor
Streptococcus pyogenes (group A streptococcus) causes rheumatic fever (RF) which later progresses towards rheumatic heart disease (RHD) in the susceptible individuals. RF and RHD both contribute towards increasing global burden of disease, especially in developing countries. RHD is one of the most common acquired heart diseases causing permanent damage to heart valves which ultimately leads to heart failure. In RHD, heart valve lesions are formed which are mediated by autoimmune reaction between streptococcal antigens (M protein and group A carbohydrate epitope GlcNAc) and heart tissues...
December 2, 2016: Cytokine
https://www.readbyqxmd.com/read/27917384/genetic-alterations-in-intervertebral-disc-disease
#2
REVIEW
Nikolay L Martirosyan, Arpan A Patel, Alessandro Carotenuto, M Yashar S Kalani, Evgenii Belykh, Corey T Walker, Mark C Preul, Nicholas Theodore
BACKGROUND: Intervertebral disc degeneration (IVDD) is considered a multifactorial disease that is influenced by both environmental and genetic factors. The last two decades of research strongly demonstrate that genetic factors contribute about 75% of the IVDD etiology. Recent total genome sequencing studies have shed light on the various single-nucleotide polymorphisms (SNPs) that are associated with IVDD. AIM: This review presents comprehensive and updated information about the diversity of genetic factors in the inflammatory, degradative, homeostatic, and structural systems involved in the IVDD...
2016: Frontiers in Surgery
https://www.readbyqxmd.com/read/27914129/polymorphisms-of-promoter-region-of-tnf-%C3%AE-gene-in-iranian-azeri-turkish-patients-with-beh%C3%A3-et-s-disease
#3
Reza Abdolmohammadi, Mortaza Bonyadi
Behçet's disease (BD) is a complex chronic relapsing inflammatory disorder of unknown etiology. Alterations of the tumor necrosis factor (TNF) expression related to the polymorphic alleles of TNF gene may implicate a pathogenetic role in increased activity of this cytokine in BD. A current study aimed at investigating the possible association between BD and its clinical features in Iranian Azeri Turks with two functional TNF-α gene polymorphisms (at the positions of -238 and -857). A total number of 166 Iranian subjects were enrolled into two different groups; patients with BD (n = 64), and ethnically matched healthy controls (n = 101)...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27913812/association-between-cytokines-and-their-receptor-antagonist-gene-polymorphisms-and-clinical-risk-factors-and-acute-rejection-following-renal-transplantation
#4
SIqing Ding, Jianfei Xie, Qiquan Wan
BACKGROUND Acute rejection (AR) after renal transplantation affects both patient and graft survival. There is growing evidence of the genetic association between cytokine or its receptor antagonist and AR in solid organ transplantation. The objectives of this study were to investigate the role of recipient TNF β, IL-10, IL-1β, and IL-1 receptor antagonist (ra) gene polymorphism, as well as traditional clinical variables such as panel-reactive antibody (PRA) levels, donor type, and HLA mismatches in AR following renal transplantation...
December 3, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27906437/vitamin-d-receptor-polymorphisms-as-tool-for-early-screening-of-severe-bone-loss-in-women-patients-with-rheumatoid-arthritis
#5
G Di Spigna, A Del Puente, B Covelli, E Abete, E Varriale, S Salzano, L Postiglione
OBJECTIVE: Rheumatoid Arthritis (RA) is an autoimmune inflammatory disease that leads to local and systemic arthritis and bone loss. Exploring genetic markers of candidate genes in osteoporosis and inflammatory cytokine genes could be a useful tool for the early identification of bone loss and fracture risk in RA patients. The target of this study is the evaluation and correlation between of Single Nucleotide Polymorphisms (SNPs) of Vitamin D Receptor (VDR) and possible effects on bone loss in RA...
November 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27900634/socs2-polymorphisms-are-not-associated-with-clinical-and-biochemical-phenotypes-in-acromegalic-patients
#6
Ericka B Trarbach, Alexander A Jorge, Felipe H Duarte, Marcello D Bronstein, Raquel S Jallad
PURPOSE: Suppressor of cytokine signaling 2 (SOCS2) is a STAT5b-regulated gene and one of its functions is to influence growth and development through negative regulatory effects on GH/IGF-1 pathway. So, we evaluate the potential influence of SOCS2 single nucleotide polymorphisms (SNPs) on clinical and laboratorial characteristics of a large cohort of Brazilian patients with acromegaly. METHODS: Four SOCS2 SNPs (rs3782415, rs3816997, rs3825199 and rs11107116) were selected and genotyped by real-time PCR using specific Taqman probe assays...
November 29, 2016: Pituitary
https://www.readbyqxmd.com/read/27897403/new-genetic-signatures-associated-with-cancer-cachexia-as-defined-by-low-skeletal-muscle-index-and-weight-loss
#7
Neil Johns, Cynthia Stretch, Benjamin H L Tan, Tora S Solheim, Sveinung Sørhaug, Nathan A Stephens, Ioannis Gioulbasanis, Richard J E Skipworth, D A Christopher Deans, Antonio Vigano, James A Ross, Oliver F Bathe, Michel L Tremblay, Stein Kaasa, Florian Strasser, Bruno Gagnon, Vickie E Baracos, Sambasivarao Damaraju, Kenneth C H Fearon
BACKGROUND: Cachexia affects the majority with advanced cancer. Based on current demographic and clinical factors, it is not possible to predict who will develop cachexia or not. Such variation may, in part, be due to genotype. It has recently been proposed to extend the diagnostic criteria for cachexia to include a direct measure of low skeletal muscle index (LSMI) in addition to weight loss (WL). We aimed to explore our panel of candidate single nucleotide polymorphism (SNPs) for association with WL +/- computerized tomography-defined LSMI...
August 5, 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27896842/il-12b-gene-polymorphisms-and-il-12-p70-serum-levels-among-patients-with-rheumatoid-arthritis
#8
A Paradowska-Gorycka, A Sowinska, B Stypińska, E Haladyj, A Pawlik, K Romanowska-Próchnicka, M Olesinska
OBJECTIVES: Rheumatoid arthritis (RA) is one of the autoimmune diseases, where different polymorphisms in cytokine genes play a pathogenic role. IL-12 is now recognized as a critical cytokine in terms of regulating the balance between Th1 and Th2 cells. We investigated the role of single-nucleotide polymorphisms (SNPs) (rs3212227 (A/C) and rs17860508 (CTCTAA/GC)) of the IL-12B gene in the genetic susceptibility to RA and in the severity of the disease. METHODS: Six hundred and thirty four Caucasian RA patients and 341 healthy matched controls were studied using PCR-RFLP method and High-resolution melting analysis...
November 29, 2016: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/27893701/the-signaling-adaptor-traf1-negatively-regulates-toll-like-receptor-signaling-and-this-underlies-its-role-in-rheumatic-disease
#9
Ali A Abdul-Sater, Maria I Edilova, Derek L Clouthier, Achire Mbanwi, Elisabeth Kremmer, Tania H Watts
TRAF1 is a signaling adaptor known for its role in tumor necrosis factor receptor-induced cell survival. Here we show that monocytes from healthy human subjects with a rheumatoid arthritis-associated single-nucleotide polymorphism (SNP) in the TRAF1 gene express less TRAF1 protein but greater amounts of inflammatory cytokines in response to lipopolysaccharide (LPS). The TRAF1 MATH domain binds directly to three components of the linear ubiquitination (LUBAC) complex, SHARPIN, HOIP and HOIL-1, to interfere with the recruitment and linear ubiquitination of NEMO...
November 28, 2016: Nature Immunology
https://www.readbyqxmd.com/read/27891653/polymorphisms-in-cytokine-genes-influence-cognitive-and-functional-performance-in-a-population-aged-75%C3%A2-years-and-above
#10
Vanessa G Fraga, Henrique C Guimarães, Antônio L Teixeira, Maira T Barbosa, Maria G Carvalho, Paulo Caramelli, Karina B Gomes
OBJECTIVE: To investigate the frequency of the cytokine single nucleotide polymorphisms (SNPs) tumor necrosis factor (TNF)-α -308G > A, tumor growth factor (TGF)-β1 codon +10C > T, TGF-β1 codon +25G > C, interleukin (IL)-10 -1082A > G, IL-10 -819C > T, IL-10 -592C > A, IL-6 -174G > C, and IFN-γ +874T > A in a sample of healthy and cognitively impaired elderlies and to verify the probable association between these SNPs and cognitive and functional performance of subjects aged 75 years and above...
November 28, 2016: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/27888067/allele-and-genotype-frequencies-of-polymorphisms-in-cytokine-genes-in-ethnic-russian-individuals-from-moscow-russia
#11
Alexandra Shadrina, Elena Voronina, Igor Zolotukhin, Maxim Filipenko
Two hundred and twenty eight ethnic Russian individuals from Moscow, Russia, were genotyped at 14 single nucleotide polymorphisms CCL2 A-2578G; VEGFA C-2578A, G-634C, and C+936T; TNF G+419A and G-308A; IL1A G-889A; IL1RN T+1018C; IL6 G-174C and G-572C; IFNG T+874A; IL1B C-511T; IL10 A+1082G; TGFB1 C-509T. Genotypes were determined using real-time polymerase chain reaction with TaqMan probes and polymerase chain reaction followed by melting analysis of dual-labeled probe. Genotype distribution was in accordance with Hardy-Weinberg equilibrium for all studied polymorphisms...
November 22, 2016: Human Immunology
https://www.readbyqxmd.com/read/27886329/interleukin-8-251a-t-polymorphism-and-periodontitis-susceptibility-a-meta-analysis
#12
Z J Yang, X P Tang, Q G Lai, J B Ci, K F Yuan
The -251A/T polymorphism in the anti-inflammatory cytokine interleukin-8 (IL-8) gene has been implicated in susceptibility to periodontitis; however, this correlation has not been elucidated. In this meta-analysis, we investigated the association between the IL-8 -251A/T polymorphism and the risk of periodontitis. All eligible case-control studies published until August 2014 were identified and extracted from PubMed, Web of Science, EMBASE, China National Knowledge Internet, and WanFang databases. The strength of this association was accessed by pooled odds ratios (ORs) with 95% confidence intervals (CIs), using either a fixed- or random-effect model...
November 21, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27881944/-2518-a-g-mcp-1-but-not-403-g-a-rantes-gene-polymorphism-is-associated-with-enhanced-risk-of-basal-cell-carcinoma
#13
Michał Sobjanek, Monika Zabłotna, Aneta Szczerkowska-Dobosz, Katarzyna Ruckemann-Dziurdzińska, Malgorzata Sokolowska-Wojdylo, Roman Nowicki
INTRODUCTION: Polymorphic variants of MCP-1 and RANTES genes and their protein serum levels have been implicated in the increased risk and severity of several malignancies. However, the subject has not been explored in basal cell carcinoma (BCC) patients so far. AIM: To investigate the association between monocyte chemoattractant protein 1 (MCP-1) (-2518 A/G) and RANTES (-403 G/A) polymorphism and risk and clinical course of BCC. MATERIAL AND METHODS: The study group consisted of 150 unrelated patients with BCC and 140 healthy, unrelated, age- and sex-matched volunteers...
October 2016: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/27881017/association-between-interleukin-18-variants-and-prostate-cancer-in-slovak-population
#14
J Jurecekova, E Babusikova, M Kmetova Sivonova, H Drobkova, M Petras, J Kliment, E Halasova
Interleukin-18 (IL-18), pro-inflammatory cytokine, plays important role in antitumor immunity. Polymorphisms in the IL-18 gene may lead to its altered production/activity and such modulate susceptibility to prostate cancer. The aim of this study was to evaluate the relationship between the -607 and +105 polymorphisms in the IL-18 gene and the risk of prostate cancer development and progression in Slovak population. The study was performed using 425 patients with prostate cancer, 270 patients with benign prostatic hyperplasia (BHP) and 263 healthy male controls...
November 24, 2016: Neoplasma
https://www.readbyqxmd.com/read/27878683/april-gene-polymorphism-and-serum-sapril-levels-in-children-with-systemic-lupus-erythematosus
#15
Shideh Namazi, Nader Tajik, Vahid Ziaee, Maryam Sadr, Samaneh Soltani, Arezou Rezaei, Samaneh Zoghi, Nima Rezaei
Systemic lupus erythematosus (SLE) is a multi-factor autoimmune disorder with diverse clinical manifestations and unclear pathogenesis. Genetic components play important roles in the incidence and development of SLE. Among these, APRIL as a cytokine has roles in the stimulation and antibody production in B cells. APRIL was hypothesized to be associated with SLE. The aim of this study was to assess the involvement of the APRIL gene in SLE susceptibility in Iranian patients. A single-nucleotide polymorphism (SNP) for rs11552708 of APRIL gene was analyzed by real-time PCR in 60 SLE Iranian children and 64 healthy controls...
November 23, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27876593/intact-interferon-%C3%AE-response-against-coxiella-burnetii-by-peripheral-blood-mononuclear-cells-in-chronic-q-fever
#16
Teske Schoffelen, Julien Textoris, Chantal P Bleeker-Rovers, Amira Ben Amara, Jos W M van der Meer, Mihai G Netea, Jean-Louis Mege, Marcel van Deuren, Esther van de Vosse
OBJECTIVES: Q fever is caused by Coxiella burnetii, an intracellular bacterium that infects phagocytes. The aim of the present study was to investigate whether the C. burnetii-induced IFN-γ response is defective in chronic Q fever patients. METHODS: IFN-γ was measured in supernatants of C. burnetii-stimulated peripheral blood mononuclear cells (PBMCs) of 17 chronic Q fever patients and 17 healthy individuals. To assess IFN-γ responses, expression profiles of IFN-γ-induced genes in C...
November 19, 2016: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/27873324/red-blood-cell-alloimmunization-in-patients-with-sickle-cell-disease-correlation-with-hla-and-cytokine-gene-polymorphisms
#17
Emilia Ângela Sippert, Jeane Eliete Laguila Visentainer, Hugo Vicentin Alves, Camila Rodrigues, Simone Cristina Olenscki Gilli, Marcelo Addas-Carvalho, Sara Teresinha Ollala Saad, Fernando Ferreira Costa, Lilian Castilho
BACKGROUND: The reason for the difference in susceptibility to red blood cell (RBC) alloimmunization among patients with sickle cell disease (SCD) is not clearly understood and is probably the result of multiple factors. Our hypothesis is that genetic polymorphisms are associated with RBC alloimmunization. STUDY DESIGN AND METHODS: We investigated the possible association of susceptibility to RBC alloimmunization with polymorphisms of HLA and cytokines genes in 161 SCD patients prior exposed to RBC transfusion...
November 21, 2016: Transfusion
https://www.readbyqxmd.com/read/27861595/tlr4-cd14-variants-related-serologic-and-immunologic-dys-regulations-predict-severe-sepsis-in-febrile-de-compensated-cirrhotic-patients
#18
Wen-Chien Fan, Chih-Wei Liu, Shuo-Ming Ou, Chia-Chang Huang, Tzu-Hao Li, Kuei-Chuan Lee, Shiang-Fen Huang, Ying-Ying Yang, Yun-Cheng Hsieh, Shie-Liang Hsieh, Ming-Chih Hou, Han-Chieh Lin
Genetic variants and dysfunctional monocyte had been reported to be associated with infection susceptibility in advanced cirrhotic patients. This study aims to explore genetic predictive markers and relevant immune dysfunction that contributed to severe sepsis in febrile acute de-compensated cirrhotic patents. Polymorphism analysis of candidate genes was undergone in 108 febrile acute de-compensated cirrhotic patients and 121 healthy volunteers. Various plasma inflammatory/regulatory cytokines, proportion of classical (CD 16-, phagocytic) and non-classical (CD16+, inflammatory) monocytes, lipopolysaccharide (LPS)-stimulated toll-like receptor 4 (TLR4) and intracellular/extracellular cytokines on cultured non-classical monocytes, mCD14/HLA-DR expression and phagocytosis of classical monocytes were measured...
2016: PloS One
https://www.readbyqxmd.com/read/27859608/the-2518-a-g-mcp-1-and-403-g-a-rantes-promoter-gene-polymorphisms-are-associated-with-psoriasis-vulgaris
#19
M Zablotna, M Sobjanek, D Purzycka-Bohdan, A Szczerkowska-Dobosz, B Nedoszytko, R Nowicki
BACKGROUND: Polymorphic variants of the genes encoding monocyte chemoattractant protein-1 (MCP-1/CCL2) and regulated upon activation normal T-cell expressed and secreted (RANTES/CCL5) and their protein serum levels have not been widely explored in psoriasis. AIM: To clarify the effect of the MCP-1 (-2518 A/G) and RANTES (-403 G/A) promoter gene polymorphisms on the risk and clinical manifestation of psoriasis. METHODS: We enrolled 160 unrelated patients with psoriasis vulgaris and 160 healthy, unrelated, age- and sex-matched volunteers...
December 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27858853/genome-wide-linkage-analysis-and-regional-fine-mapping-identified-variants-in-the-ryr3-gene-as-a-novel-quantitative-trait-locus-for-circulating-adiponectin-in-chinese-population
#20
Yi-Cheng Chang, Yen-Feng Chiu, Chih-Tsueng He, Wayne Huey-Herng Sheu, Ming-Wei Lin, Todd B Seto, Themistocles Assimes, Yuh-Shan Jou, Lynn Su, Wei-Jei Lee, Po-Chu Lee, Shu-Huei Tsai, Lee-Ming Chuang
Adiponectin is adipocyte-secreted cytokine with potent insulin-sensitizing action in peripheral tissues. The heritability of plasma adiponectin is high in Han Chinese population.To identify genetic loci influencing plasma adiponectin levels in Chinese population, we performed a genome-wide linkage scan in 1949 Chinese participants of the Stanford Asia-Pacific Program for Hypertension and Insulin Resistance family study and mapped a quantitative trail locus located on chromosome 15 at 31 cM (logarithm of odds = 3...
November 2016: Medicine (Baltimore)
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