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Cytokine gene polymorphism

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https://www.readbyqxmd.com/read/28101335/novel-snps-in-il-17f-and-il-17a-genes-associated-with-somatic-cell-count-in-chinese-holstein-and-inner-mongolia-sanhe-cattle
#1
Tahir Usman, Yachun Wang, Chao Liu, Yanghua He, Xiao Wang, Yichun Dong, Hongjun Wu, Airong Liu, Ying Yu
BACKGROUND: Bovine mastitis is the most common and costly disease of lactating cattle worldwide. Apart from milk somatic cell count (SCC) and somatic cell score (SCS), serum cytokines such as interleukin-17 (IL-17) and interleukin-4 (IL-4) may also be potential indicators for bovine mastitis. The present study was designed to investigate the effects of single nucleotide polymorphisms (SNPs) in bovine IL-17F and IL-17A genes on SCC, SCS and serum cytokines in Chinese Holstein and Inner-Mongolia Sanhe cattle, and to compare the mRNA expression variations of the cows with different genotypes...
2017: Journal of Animal Science and Biotechnology
https://www.readbyqxmd.com/read/28099578/il-6-and-il-10-gene-polymorphisms-in-patients-with-aggressive-periodontitis-effects-on-gcf-serum-and-clinic-parameters
#2
Emine Pirim Gorgun, Hulya Toker, Ertan Mahir Korkmaz, Omer Poyraz
Genetic variations observed in cytokines affect periodontitis susceptibility. The aim of this study was to investigate interleukin(IL)-6(-174) and IL-10(-597) gene polymorphisms in generalized aggressive periodontitis (GAgP) patients. Also, we aimed to evaluate the effects of IL-6 and IL-10 gene polymorphisms on the clinical outcomes of non-surgical periodontal therapy and cytokine levels in gingival crevicular fluid(GCF) and serum. Fifty-three patients with GAgP and 50 periodontally healthy individuals were included in this study...
January 16, 2017: Brazilian Oral Research
https://www.readbyqxmd.com/read/28095319/autophagy-and-autoimmunity
#3
REVIEW
Dennis J Wu, Iannis E Adamopoulos
Autophagy is a highly conserved protein degradation pathway from yeasts to humans that is essential for removing protein aggregates and misfolded proteins in healthy cells. Recently, autophagy-related genes polymorphisms have been implicated in several autoimmune diseases including systemic lupus erythematosus, rheumatoid arthritis, psoriasis, and multiple sclerosis. Numerous studies reveal autophagy and autophagy-related proteins also participate in immune regulation. Conditional deletions of autophagy-related proteins in mice have rendered protection from experimental autoimmune encephalomyelitis, and TNF-mediated joint destruction in animal models of multiple sclerosis and experimental arthritis respectively...
January 14, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28094303/genetic-polymorphisms-of-rs3077-and-rs9277535-in-hla-dp-associated-with-systemic-lupus-erythematosus-in-a-chinese-population
#4
Junlong Zhang, Wenli Zhan, Bin Yang, Anning Tian, Lin Chen, Yun Liao, Yongkang Wu, Bei Cai, Lanlan Wang
Although the SLE risk gene loci of HLA-DR and HLA-DQ within the major histocompatibility complex (MHC) region has been gradually revealed by recent Genome-Wide Association studies (GWAS), the association of HLA-DP polymorphisms with SLE was minimally reported. Considering that the variants in rs3077 and rs9277535 in the HLA-DP region could influence the immune response by affecting antigen presentation of HLA class II molecules to CD4(+) T cells, the present study aimed to explore the role of HLA-DP polymorphisms in SLE...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28090279/association-of-atp-binding-cassette-transporter-a1-abca1-565-c-t-gene-polymorphism-with-hypoalphalipoproteinemia-and-serum-lipids-il-6-and-crp-levels
#5
Mohammad Mahdi Babashamsi, Sohrab Halalkhor, Hamid Moradi Firouzjah, Hadi Parsian, Seyed Farzad Jalali, Mohammad Babashamsi
BACKGROUND: ATP-binding cassette transporter A1 (ABCA1) is a membrane integral protein which plays a vital role in High Density Lipoprotein (HDL) metabolism and exerts a protective effect against Hypoalphalipoproteinemia (HA) by mediation of rate-limiting step in HDL biogenesis. In addition, this protein possesses anti-inflammatory effects by inhibiting the production of some inflammatory cytokines in macrophages. This study investigated the association of ABCA1-565 C/T gene polymorphism with HA and serum lipids, IL-6 and CRP levels...
January 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/28079285/a-pathway-based-association-study-reveals-variants-from-wnt-signaling-genes-contributing-to-asthma-susceptibility
#6
A Barreto-Luis, A Corrales, M Acosta-Herrera, C Gonzalez-Colino, J Cumplido, J Martinez-Tadeo, A Carracedo, J Villar, T Carrillo, M Pino-Yanes, C Flores
BACKGROUND: Genetic susceptibility to asthma is currently linked to a handful of genes which have a limited ability to predict the overall disease risk, suggesting the existence of many other genes involved in disease development. Accumulated evidence from association studies in genes related by biological pathways could reveal novel asthma genes. OBJECTIVE: To reveal novel asthma susceptibility genes by means of a pathway-based association study. METHODS: Based on summary data from a previous a genome-wide association study (GWAS) of asthma, we first identified significant biological pathways using a gene-set enrichment analysis...
January 12, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28076799/adenylyl-cyclase-type-9-gene-polymorphisms-are-associated-with-asthma-and-allergy-in-brazilian-children
#7
Helena M P Teixeira, Neuza M Alcantara-Neves, Maurício Barreto, Camila A Figueiredo, Ryan S Costa
Asthma is a chronic inflammatory disease of the respiratory tract. This heterogeneous disease is caused by the interaction of interindividual genetic variability and environmental factors. The gene adenylyl cyclase type 9 (ADCY9) encodes a protein called adenylyl cyclase (AC), responsible for producing the second messenger cyclic AMP (cAMP). cAMP is produced by T regulatory cells and is involved in the down-regulation of T effector cells. Failures in cAMP production may be related to an imbalance in the regulatory immune response, leading to immune-mediated diseases, such as allergic disorders...
January 8, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28073161/the-pnpla3-i148m-variant-modulates-the-fibrogenic-phenotype-of-human-hepatic-stellate-cells
#8
Francesca Virginia Bruschi, Thierry Claudel, Matteo Tardelli, Alessandra Caligiuri, Thomas M Stulnig, Fabio Marra, Michael Trauner
: The genetic polymorphism I148M of PNPLA3 is robustly associated with hepatic steatosis and its progression to steatohepatitis, fibrosis and cancer. Hepatic stellate cells (HSCs) are key players in the development of liver fibrosis, but the role of PNPLA3 and its variant I148M in this process is poorly understood. Here we analyzed the expression of PNPLA3 during human HSC activation and thereby explored how a PNPLA3 variant impacts on hepatic fibrogenesis. We show that PNPLA3 gene and protein expression increase during the early phases of activation and remain elevated in fully activated HSCs (p<0...
January 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28064321/-evolutionary-plasticity-of-il-6-cytokine-family
#9
E A Gorshkova, S A Nedospasov, E S Shilov
The IL-6 family of cytokines includes a variety of proteins that function not only within the immune system, but also in other organs, tissues, and types of cells, including neurons. The common evolutionary origin of the IL-6 family proteins determines similar mechanisms of reception and intracellular signaling, although their primary structures are highly variable, as well as their biological functions. We have demonstrated that the members of the IL-6 family have high evolutionary plasticity. This manifests in a high degree of population polymorphism for IL-6 family genes, as well as varying degrees of evolutionary conservation among members of the family...
November 2016: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28054352/impact-of-il13-genetic-polymorphism-arg130gln-on-total-serum-ige-levels-and-ifn-%C3%AE-gene-expression
#10
Bozena Smolkova, Jana Tulinska, Lubica Palkovicova Murinova, Verona Buocikova, Aurelia Liskova, Katarina Rausova, Miroslava Kuricova, Henrieta Patayova, Maria Sustrova, Eva Neubauerova Svorcova, Silvia Ilavska, Michaela Szabova, Tomas Nemessanyi, Eva Jahnova, Maria Dusinska, Peter Ciznar, Laurence Fuortes
This cross-sectional study was designed to investigate the extent of genetic susceptibility by targeting variants in IL-4/IL-13 signalling pathways leading to atopic disease in early childhood. We evaluated involvement of five single nucleotide polymorphisms IL4 C-590T, IL13 C-1055T, IL13 Arg130Gln, IL4RA Ile50Val and IL4RA Ser478Pro, in the control of serum total and antigen-specific IgE levels. Furthermore, we analyzed their association with changes in gene expression of five cytokines having key roles in inflammatory and anti-inflammatory immune response (IL-4, IL-13, IFN-γ, IL-8 and IL-10)...
January 5, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28053321/functionality-and-opposite-roles-of-two-interleukin-4-haplotypes-in-immune-cells
#11
G Anovazzi, M C Medeiros, S C Pigossi, L S Finoti, T M Souza Moreira, M P A Mayer, C F Zanelli, S R Valentini, C Rossa-Junior, R M Scarel-Caminaga
Cytokines expression can be influenced by polymorphisms in their respective coding genes. We associated the CTI/TTD haplotype (Hap-1) and TCI/CCI haplotype (Hap-2) in the IL4 gene formed by the -590, +33 and variable number of tandem repeat polymorphisms with the severity of chronic periodontitis in humans. The functionality of these IL4 haplotypes in the response of immune cells to phorbol 12-myristate 13-acetate (PMA) with Ionomycin and IL-1β (as inflammatory stimuli) was evaluated. Gene expression (quantitative real-time PCR), profile of secreted cytokines (multiplex) and phenotypic polarization of T cells (flow cytometry) were the outcomes assessed...
January 5, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28053319/pre-diagnostic-genotyping-identifies-t1d-subjects-with-impaired-treg-il-2-signaling-and-an-elevated-proportion-of-foxp3-il-17-cells
#12
A K Marwaha, C Panagiotopoulos, C M Biggs, S Staiger, K L Del Bel, A F Hirschfeld, J J Priatel, S E Turvey, R Tan
T-regulatory cells (Tregs) are essential for immune tolerance, and animal studies implicate their dysfunction in type 1 diabetes (T1D) pathogenesis. Tregs require interleukin-2 (IL-2) for their suppressive function, and variants in IL-2/IL-2R pathway genes have been associated with T1D. We previously reported that recent-onset T1D subjects have an increased population of FOXP3(lo) Tregs that secrete the pro-inflammatory cytokine, interleukin-17 (IL-17). We hypothesize that IL-2 signaling defects may drive T1D development by skewing protective Tregs towards an inflammatory Th17 phenotype...
January 5, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28046022/association-of-tlr3-l412f-polymorphism-with-cytomegalovirus-infection-in-children
#13
Mirosława Studzińska, Agnieszka Jabłońska, Małgorzata Wiśniewska-Ligier, Dorota Nowakowska, Zuzanna Gaj, Zbigniew J Leśnikowski, Teresa Woźniakowska-Gęsicka, Jan Wilczyński, Edyta Paradowska
Intracellular Toll-like receptor 3 (TLR3) recognizes viral double-stranded RNA (dsRNA) and activates antiviral immune responses through the production of type I interferons (IFNs) and inflammatory cytokines. This receptor binds to dsRNA molecules produced during human cytomegalovirus (HCMV) replication. TLR7 senses viral single-stranded RNA (ssRNA) in endosomes, and it can interact with endogenous RNAs. We determined the genotype distribution of single-nucleotide polymorphisms (SNPs) within the TLR3 and TLR7 genes in children with HCMV infection and the relationship between TLR polymorphisms and viral infection...
2017: PloS One
https://www.readbyqxmd.com/read/28044937/cytokine-status-of-serum-in-ovarian-cancer-patients-with-different-tumor-neoadjuvant-chemotherapy-response
#14
Inna I Antoneeva, Tatyana V Abakumova, Dinara R Dolgova, Tatyana P Gening, Sabina S Pirmamedova, Dinara F Myasnikova, Snezhanna O Gening
The purpose of the study was to evaluate the cytokine status in the blood serum of ovarian cancer (OC) patients with different tumor neoadjuvant chemotherapy (NACT) response. We determined the levels of IL-1β, -1Ra, -10, TNF-α by enzyme-linked immunosorbent assay in the blood serum of 97 patients with primary ovarian cancer and 64 healthy women. Analysis of polymorphic variants of specific sections of cytokine genes was performed using allele- specific PCR. Polymorphic variants were selected within the promoters of IL-1β T- 31C gene (rs 1143627 ), TNF-α G-308A (rs 1800629) and IL-10 G-1082A (rs 1800896), presented in dbS`NP NCBI and SNP500 Cancer databases...
January 2, 2017: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/28043509/susceptibility-to-pulmonary-tuberculosis-host-genetic-deficiency-in-tumor-necrosis-factor-alpha-tnf-%C3%AE-gene-and-tumor-necrosis-factor-receptor-2-tnfr2
#15
Ehsan Ghamari, Poopak Farnia, Shima Saif, Mehran Marashian, Jaladein Ghanavi, Payam Tabarsi, Parissa Farnia, Ali Akbar Velayati
OBJECTIVE/BACKGROUND: The susceptibility to tuberculosis (TB) depends upon different factors, and the risk of developing diseases after infection with Mycobacterium tuberculosis ranges from 5% to 10%. This suggests that besides the mycobacterial itself, the host genetic factors may determine the differences in host susceptibility to TB. Among the important risk factors, cytokines and especially tumor necrosis factor alpha (TNF-α) genes, are thought to be responsible for regulating the protective immune responses...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28038927/cellular-immune-response-to-%C3%AE-2-glycoprotein-i-valine-leucine-247-phenotypes-in-mexican-patients-with-primary-antiphospholipid-syndrome
#16
Carlos A Núñez-Álvarez, Diego F Hernández-Ramírez, Araceli Martinez-Castillo, Virginia Pascual Ramos, Javier Cabiedes, Alicia Ortega, Antonio R Cabral
: Homozygote genotype V(247) of the β2-glycoprotein-I (β2GP-I) gene has been associated with anti-β2GP-I and thrombosis in patients with primary anti-phospholipid syndrome APS (PAPS). However, the cellular immune response to β2GP-I(247) has been little studied. OBJECTIVE: To evaluate the immune cellular proliferation in response to native and non-native β2GP-I(247) valine/leucine phenotype from Mexican patients with PAPS. METHODS: We studied 10 patients with PAPS and 10 healthy control subjects (HC)...
December 27, 2016: Human Immunology
https://www.readbyqxmd.com/read/28036156/interleukin-4-cytokine-single-nucleotide-polymorphisms-in-kawasaki-disease-a-case-control-study-and-a-review-of-knowledge
#17
Raheleh Assari, Yahya Aghighi, Vahid Ziaee, Maryam Sadr, Arezou Rezaei, Farzaneh Rahmani, Zeinab Sadr, Seyed Reza Raeeskarami, Mohammad Hassan Moradinejad, Nima Rezaei
AIM: Kawasaki disease (KD) is a systemic vasculitis of medium-sized arteries. High levels of interleukin 4 (IL-4) and the dominance of Th2 cytokines seem to be a key feature in the acute phase of KD. In this study, the role of IL-4 and IL-4R gene polymorphisms were investigated in Iranian children with KD. METHODS: Fifty-five patients with KD and 140 healthy subjects as a control group were enrolled in this study. Single nucleotide polymorphisms (SNPs) of IL-4 gene at positions -1098 (rs2243248), -590 (rs2243250) and -33 (rs2070874), as well as IL-4RA gene at position +1902 (rs180275) were assessed in patients and the control group...
December 30, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28031337/immune-modifications-in-fetal-membranes-overlying-the-cervix-precede-parturition-in-humans
#18
Louis Marcellin, Thomas Schmitz, Meriem Messaoudene, Driss Chader, Christophe Parizot, Sébastien Jacques, Jérémy Delaire, Jean Gogusev, Alain Schmitt, Corinne Lesaffre, Michelle Breuiller-Fouché, Anne Caignard, Daniel Vaiman, François Goffinet, Dominique Cabrol, Guy Gorochov, Céline Méhats
In humans, parturition is currently viewed as an intrauterine outbreak of inflammation, accompanied by a massive release of proinflammatory cytokines at the maternal-fetal interface that comprises the maternal decidua, placenta, and fetal membranes. At term, fetal membranes overlying the cervix, the future site of rupture, show altered morphology and are termed the zone of altered morphology (ZAM). These alterations occur in normal fetal membranes during late pregnancy, in preparation for labor. In this study, transcriptome, flow cytometry, electron microscopy, and immunohistochemistry analyses collectively highlight a local shift in gene expression and lymphocyte activation in the ZAM...
December 28, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28027921/t-helper-2-cytokine-regulatory-t-cell-gene-polymorphisms-and-their-relation-with-risk-of-psoriasis-in-a-south-indian-tamil-cohort
#19
Sundar Indhumathi, Medha Rajappa, Laxmisha Chandrashekar, Palghat Hariharan Ananthanarayanan, Devinder Mohan Thappa, Vir Singh Negi
BACKGROUND: Psoriasis is known to be associated with an up-regulation of T-helper (Th)-1 & Th-17 cytokines and a relative down-regulation of Th-2 and T-regulatory (T-reg) cytokines. Certain allelic variants of these cytokine genes may alter Th1/Th17 and Th2/T-reg balance and may be associated with the risk of psoriasis. Hence we aimed to determine the association of IL-4 (rs2243250), IL-10 (rs1800871 and rs1800896) and FOXP3 (rs3761548) gene polymorphisms with risk of psoriasis in South Indian Tamils...
December 24, 2016: Human Immunology
https://www.readbyqxmd.com/read/28018996/asymptomatic-circulating-t-cell-clone-cause-renal-polymorphic-inflammatory-fibrosis
#20
David Ribes, Audrey Casemayou, Hélène El Hachem, Camille Laurent, Céline Guilbeau-Frugier, François Vergez, Suzanne Tavitian, Joost P Schanstra, Dominique Chauveau, Jean-Loup Bascands, Loïc Ysebaert, Stanislas Faguer
BACKGROUND: Renal complications of non-Hodgkin lymphoma encompass a wide spectrum of monoclonal Ig-related pathologies. Clonal circulating T cells can also be associated with non-renal autoimmune disorders induced by overproduction of specific patterns of cytokines or unbalanced lymphocytes sub-populations. METHODS: Immunophenotyping of circulating T cells and TCR gene restriction analysis using Biomed-2 protocol. NF-κB staining and mRNA quantification of inflammatory genes in HK-2 epithelial renal cells exposed to supernatants of peripheral blood mononuclear cells with clonal T-cell population...
December 26, 2016: Clinical and Experimental Nephrology
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