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Cytokine gene polymorphism

T V Lezheiko, A V Andryushchenko, G I Korovaitseva, N V Kondratiev, M V Gabaeva, E V Krikova, V E Golimbet
AIM: To study the association between proinflammatory cytokine genes and depression. MATERIAL AND METHODS: IL-1B С-511T and TNF-a G-308A gene polymorphisms were studied in patients diagnosed with depression and age and sex-matched healthy controls. RESULTS AND CONCLUSION: The IL-1B С-511T and TNF-a G-308A polymorphisms were associated with depression; CC genotype (р=0,001, OR=1.9 CI 1,3-2,7) and GG genotype (р=0,001, OR=3,0 CI 1,8-4,9) were the risk factors...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Juanjuan Ji, Yunwei Yang, Yan Lin, Xudong Li, Xiaoguang Wu, Xi Yang, Ling Zhong, Ying Tang, Zhiyong Huang, Xiaoguang He
Obstructive sleep apnea syndrome (OSAS) is a common health problem that is associated with abnormality in craniofacial morphology. The growth hormone receptor (GHR) belongs to the cytokine receptor superfamily and mediates the majority of growth hormone signaling, which, among other functions, determines mandibular growth and development. The aim of this study was to determine if correlations exist between single nucleotide polymorphisms (SNPs) in the GHR gene and OSAS in the Han or Hani ethnic groups in China...
April 13, 2018: Neurological Sciences
Jun Hozumi, Masahiko Sumitani, Daisuke Nishizawa, Makoto Nagashima, Kazutaka Ikeda, Hiroaki Abe, Ryoji Kato, Yoshiomi Kusakabe, Yoshitsugu Yamada
BACKGROUND: Pro- and anti-inflammatory cytokines (adipokines) associated with adipose tissue can modulate inflammatory processes and lead to systemic inflammatory conditions such as metabolic syndrome. In the present pilot study, we investigated 3 major adipokines (leptin, adiponectin, and resistin) and 2 nonspecific proinflammatory cytokines (tumor necrosis factor α and interleukin-6) with regard to their association with postoperative pain intensity. METHODS: We analyzed a total of 45 single-nucleotide polymorphisms of the adipokines in 57 patients with postlaparotomy pain...
April 11, 2018: Anesthesia and Analgesia
Jiyang Jiang, Anbupalam Thalamuthu, Jennifer E Ho, Anubha Mahajan, Weronica E Ek, David A Brown, Samuel N Breit, Thomas J Wang, Ulf Gyllensten, Ming-Huei Chen, Stefan Enroth, James L Januzzi, Lars Lind, Nicola J Armstrong, John B Kwok, Peter R Schofield, Wei Wen, Julian N Trollor, Åsa Johansson, Andrew P Morris, Ramachandran S Vasan, Perminder S Sachdev, Karen A Mather
Blood levels of growth differentiation factor-15 (GDF-15), also known as macrophage inhibitory cytokine-1 (MIC-1), have been associated with various pathological processes and diseases, including cardiovascular disease and cancer. Prior studies suggest genetic factors play a role in regulating blood MIC-1/GDF-15 concentration. In the current study, we conducted the largest genome-wide association study (GWAS) to date using a sample of ∼5,400 community-based Caucasian participants, to determine the genetic variants associated with MIC-1/GDF-15 blood concentration...
2018: Frontiers in Genetics
Lei Xia, Mingjie Chen, Dan Bi, Juan Song, Xiaoli Zhang, Yangong Wang, Dengna Zhu, Qing Shang, Falin Xu, Xiaoyang Wang, Qinghe Xing, Changlian Zhu
Background: Interleukin-10 (IL-10) is an important anti-inflammatory and immunosuppressive cytokine, and it has indispensable functions in both the onset and development of inflammatory disorders. The association between persistent inflammation and the development of cerebral palsy (CP) has attracted much attention. Objective: The purpose of this study was to investigate whether IL-10 gene polymorphisms and plasma protein expression are associated with CP and to analyze the role of IL-10 in CP...
2018: Frontiers in Neurology
Mohd Jahid, Rehan-Ul-Haq, Rajnish Avasthi, Rafat Sultana Ahmed
BACKGROUND: Rheumatoid arthritis (RA) is an autoimmune inflammatory disorder of unknown etiology. IL-10 stimulates B cell survival and is involved in antibody isotype switching. The serum IL-10 levels are increased in RA patients. Ethnicity influences polymorphisms in cytokine genes. Therefore, this study was designed to explore possible association, if any, between polymorphism of IL10-1082 A/G, serum cytokine levels, inflammatory markers and gene expression in RA patients of North India...
April 2, 2018: Clinical Biochemistry
Ekta Lachmandas, Ana B Rios-Miguel, Valerie A C M Koeken, Eva van der Pasch, Vinod Kumar, Vicky Matzaraki, Yang Li, Marije Oosting, Leo A B Joosten, Richard A Notebaart, Mahdad Noursadeghi, Mihai G Netea, Reinout van Crevel, Gabriele Pollara
Cellular metabolism can influence host immune responses to Mycobacterium tuberculosis (Mtb). Using a systems biology approach, differential expression of 292 metabolic genes involved in glycolysis, glutathione, pyrimidine and inositol phosphate pathways was evident at the site of a human tuberculin skin test challenge in patients with active tuberculosis infection. For 28 metabolic genes, we identified single nucleotide polymorphisms (SNPs) that were trans-acting for in vitro cytokine responses to Mtb stimulation, including glutathione and pyrimidine metabolism genes that alter production of Th1 and Th17 cytokines...
April 3, 2018: Journal of Infectious Diseases
Iqra Hameed, Shariq R Masoodi, Perveez A Malik, Shahnaz A Mir, Khalid Ghazanfar, Bashir A Ganai
BACKGROUND: Diabetic nephropathy is the single strongest predictor of mortality in patients with diabetes. The development of overt nephropathy involves important inter-individual variations, even after adjusting for potential confounding influences of modifiable and non-modifiable risk factors. Genome-wide transcriptome studies have reported the activation of inflammatory signaling pathways and there is mounting indication of the role of genetic factors. METHODS: We screened nine genetic variations in three cytokine genes (TNF-α, IL-6 and IL-β) in 1326 unrelated subjects comprising of healthy controls (n = 464), type 2 diabetics with nephropathy (DN, n = 448) and type 2 diabetes without nephropathy (T2D, n = 414) by sequence-specific amplification...
March 29, 2018: Gene
Bashira A Charles, Matthew M Hsieh, Adebowale A Adeyemo, Daniel Shriner, Edward Ramos, Kyung Chin, Kshitij Srivastava, Neil A Zakai, Mary Cushman, Leslie A McClure, Virginia Howard, Willy A Flegel, Charles N Rotimi, Griffin P Rodgers
BACKGROUND: Benign ethnic neutropenia (BEN) is a hematologic condition associated with people of African ancestry and specific Middle Eastern ethnic groups. Prior genetic association studies in large population showed that rs2814778 in Duffy Antigen Receptor for Chemokines (DARC) gene, specifically DARC null red cell phenotype, was associated with BEN. However, the mechanism of this red cell phenotype leading to low white cell count remained elusive. METHODS: We conducted an extreme phenotype design genome-wide association study (GWAS), analyzed ~16 million single nucleotide polymorphisms (SNP) in 1,178 African-Americans individuals from the Reasons for Geographic and Racial Differences in Stroke (REGARDS) study and replicated from 819 African-American participants in the Atherosclerosis Risk in Communities (ARIC) study...
2018: PloS One
Mariam Garelnabi, Leanne M Taylor-Smith, Ewa Bielska, Rebecca A Hall, Daniel Stones, Robin C May
Cryptococcosis remains the leading cause of fungal meningitis worldwide, caused primarily by the pathogen Cryptococcus neoformans. Symptomatic cryptococcal infections typically affect immunocompromised patients. However, environmental exposure to cryptococcal spores is ubiquitous and most healthy individuals are thought to harbor infections from early childhood onwards that are either resolved, or become latent. Since macrophages are a key host cell for cryptococcal infection, we sought to quantify the extent of individual variation in this early phagocyte response within a small cohort of healthy volunteers with no reported immunocompromising conditions...
2018: PloS One
Ming Lu, Bruce V Taylor, Heinrich Körner
Vitamin D has a plethora of functions that are important for the maintenance of general health and in particular, the functional integrity of the immune system, such as promoting an anti-inflammatory cytokine profile and reducing the Treg/Th17 ratio. Multiple sclerosis (MS) is a chronic, inflammatory, and neurodegenerative central nervous system (CNS) disorder of probable autoimmune origin. MS is characterized by recurring or progressive demyelination and degeneration of the CNS due in part to a misguided immune response to as yet undefined (CNS) antigens, potentially including myelin basic protein and proteolipid protein...
2018: Frontiers in Immunology
Behzad Bidadi, Duan Liu, Krishna R Kalari, Matthias Rubner, Alexander Hein, Matthias W Beckmann, Brigitte Rack, Wolfgang Janni, Peter A Fasching, Richard M Weinshilboum, Liewei Wang
Neutropenia secondary to chemotherapy in breast cancer patients can be life-threatening and there are no biomarkers available to predict the risk of drug-induced neutropenia in those patients. We previously performed a genome-wide association study (GWAS) for neutropenia events in women with breast cancer who were treated with 5-fluorouracil, epirubicin and cyclophosphamide and recruited to the SUCCESS-A trial. A genome-wide significant single-nucleotide polymorphism (SNP) signal in the tumor necrosis factor superfamily member 13B ( TNFSF13B ) gene, encoding the cytokine B-cell activating factor (BAFF), was identified in that GWAS...
2018: Frontiers in Pharmacology
Ming-Fen Ho, Edroaldo Lummertz da Rocha, Cheng Zhang, James Ingle, Paul Goss, Lois Shepherd, Michiaki Kubo, Liewei Wang, Hu Li, Richard Weinshilboum
TCL1A single nucleotide polymorphisms (SNPs) have been associated with aromatase inhibitor-induced musculoskeletal adverse events. We previously demonstrated that TCL1A is estradiol (E2) inducible and plays a critical role in the regulation of cytokines, chemokines and toll like receptors in a TCL1A SNP genotype and estrogen-dependent fashion. Furthermore, TCLIA SNP-dependent expression phenotypes can be "reversed" by exposure to selective estrogen receptor modulators, e.g, 4-hydroxytamoxifen (4OH-TAM)...
March 28, 2018: Journal of Pharmacology and Experimental Therapeutics
Tarak Dhaouadi, Mayssa Chahbi, Youssra Haouami, Imen Sfar, Leila Abdelmoula, Taieb Ben Abdallah, Yousr Gorgi
BACKGROUND: Interleukin-17 (IL-17), a cytokine mainly secreted by Th17 cells, seems to play a significant role in the pathogenesis of rheumatoid arthritis (RA). Functional genetic polymorphisms in IL-17 and its receptor genes can influence either qualitatively or quantitatively their functions. Therefore, we aimed to study the impact of IL17-A and IL17RC polymorphisms on plasma level of IL-17 and RA susceptibility and severity. METHODS: In this context, IL-17A*rs2275913 and IL-17RC*rs708567 polymorphisms were investigated together with the quantification of IL17 plasma level in 115 RA patients and 91 healthy control subjects matched in age, sex and ethnic origin...
2018: PloS One
Maryam Karkhane, Seyed Reza Mohebbi, Pedram Azimzadeh, Hasti Avarandeh, Shabnam Kazemian, Afsaneh Sharifian, Behzad Hatami, Hamid Asadzadeh Aghdaei
Aim: Our goal was to identify the putative association of rs4072111 variant in IL-16 gene and HCV susceptibility in an Iranian population. Background: Interleukin 16 (IL-16), a multifunctional cytokine, plays a vital role in modulation of immune system. Methods: In present case control and cross sectional study, IL-16 gene variant in 300 patients with hepatitis C (HCV) infection and 300 healthy individuals were analyzed. To evaluate this possible association, genomic DNA from venous blood was extracted and genotypes of IL-16 rs4072111 variant were determined by polymerase chain reaction- Fragments Length Polymorphism Technique (PCR-RFLP)...
2018: Gastroenterology and Hepatology From Bed to Bench
Chandrika Bhattacharyya, Partha Pratim Majumder, Bhaswati Pandit
INTRODUCTION: Variability in clinical outcome of tuberculosis infection is dependent, among other factors, on variation in host immunological response to the infection, which is modulated, in part by genetic variations present in the host. We undertook a study to identify host factors associated with such clinical variability. STUDY DESIGN AND METHODS: A comparative study between groups of active TB patients vs. clinically normal household contacts, family members living under the same roof with the patients for a long period of time, was carried out...
March 2018: Tuberculosis
Donglei Zhang, Jieying Qin, Lin Li, Guannan Su, Guo Huang, Qingfeng Cao, Aize Kijlstra, Peizeng Yang
Fc receptors are known to have a pivotal role in the initiation and regulation of many immunological and inflammatory processes. This study aimed to investigate the association of Fc receptor family gene polymorphisms with ocular Behçet's disease (BD) in Han Chinese. A two stage case-control study was performed in 1022 BD cases and 1803 healthy controls. Twenty-three SNPs were genotyped using the MassARRAY system (Sequenom), TaqMan SNP Genotyping Assay and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method...
March 19, 2018: Scientific Reports
Valérie Besnard, Alain Calender, Diane Bouvry, Yves Pacheco, Catherine Chapelon-Abric, Florence Jeny, Hilario Nunes, Carole Planès, Dominique Valeyre
BACKGROUND: Sarcoidosis is a systemic disease characterized by the formation of immune granulomas in various organs, mainly the lungs and the lymphatic system. Exaggerated granulomatous reaction might be triggered in response to unidentified antigens in individuals with genetic susceptibility. The present study aimed to determine the genetic variants implicated in a familial case of sarcoidosis. METHODS: Sarcoidosis presentation and history, NOD2 profile, NF-κB and cytokine production in blood monocytes/macrophages were evaluated in individuals from a family with late appearance of sarcoidosis...
March 20, 2018: Respiratory Research
Boris Sepesi, Yuanqing Ye, Kyle G Mitchell, Liren Zhang, Jianchun Gu, Lin Ji, Mara B Antonoff, Wayne L Hofstetter, David C Rice, Reza J Mehran, Garrett L Walsh, Ara A Vaporciyan, Stephen G Swisher, Jack A Roth, Xifeng Wu
OBJECTIVES: The purpose of this study was to explore the role of single nucleotide polymorphisms (SNPs) in cytokine signaling genes and to compare them with clinical outcomes in surgical patients with non-small cell lung cancer (NSCLC). METHODS: SNPs of the cytokine signaling pathway were analyzed using peripheral blood of 722 patients who underwent resection of stage I to III NSCLC between 1995 and 2009. Cox proportional hazard analyses were performed to identify SNPs associated with overall survival (OS) and risk of recurrence...
February 15, 2018: Journal of Thoracic and Cardiovascular Surgery
Oscar Illescas, Juan C Gomez-Verjan, Lizbeth García-Velázquez, Tzipe Govezensky, Miriam Rodriguez-Sosa
Human macrophage migration inhibitory factor (MIF) is a cytokine that plays a role in several metabolic and inflammatory processes. Single nucleotide polymorphism (SNP) -173 G/C (rs755622) on MIF gene has been associated with numerous diseases, such as arthritis and cancer. However, most of the reports concerning the association of MIF with these and other pathologies are inconsistent and remain quite controversial. Therefore, we performed a meta-analysis from 96 case-control studies on -173 G/C MIF SNP and stratified the data according to the subjects geographic localization or the disease pathophysiology, in order to determine a more meaningful significance to this SNP...
2018: Frontiers in Genetics
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