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Cytokine gene polymorphism

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https://www.readbyqxmd.com/read/28230530/developing-a-multi-component-immune-model-for-evaluating-the-risk-of-respiratory-illness-in-athletes
#1
Maree Gleeson, David B Pyne, Lisa J Elkington, Sharron T Hall, John R Attia, Christopher Oldmeadow, Lisa G Wood, Robin Callister
Clinical and laboratory identification of the underlying risk of respiratory illness in athletes has proved problematic. The aim of this study was to determine whether clinical data, combined with immune responses to standardised exercise protocols and genetic cytokine polymorphism status, could identify the risk of respiratory illness (symptoms) in a cohort of highly-trained athletes. Male endurance athletes (n=16; VO2max 66.5 ± 5.1 mL.kg-1.min-1) underwent a clinical evaluation of known risk factors by a physician and comprehensive laboratory analysis of immune responses both at rest and after two cycling ergometer tests: 60 min at 65% VO2max (LONG); and 6 x 3 min intervals at 90% VO2max (INTENSE)...
2017: Exercise Immunology Review
https://www.readbyqxmd.com/read/28225860/il-6-tnf-%C3%AE-and-il-10-levels-polymorphisms-and-their-association-with-type-2-diabetes-mellitus-and-obesity-in-brazilian-individuals
#2
Kathryna Fontana Rodrigues, Nathalia Teixeira Pietrani, Adriana Aparecida Bosco, Fernanda Magalhães Freire Campos, Valéria Cristina Sandrim, Karina Braga Gomes
Objective: This study aimed to investigate the association of plasma TNF-α, IL-6, and lL-10 levels and cytokine gene polymorphisms [TNF-α (-308 G→A), IL-6 (-174 C→G) and IL-10 (-1082 A→G, -819 T→C and -592 A→C)] in type 2 diabetes mellitus (T2DM) and obese patients. Subjects and methods: One hundred and two T2DM patients and 62 controls were included in this study. Cytokine plasma levels were measured by the Cytometric Bead Array method. Genotyping was carried out by the polymerase chain reaction...
February 16, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28225209/association-of-the-il-10-receptor-a536g-s138g-loss-of-function-variant-with-multiple-sclerosis-in-tunisian-patients
#3
Nadia Ben Fredj, Mouna Aissi, Walid Ben Selma, Imen Mahmoud, Faten Nefzi, Mahbouba Frih-Ayed, Jalel Boukadida, Mahjoub Aouni
Interleukin-10 (IL-10), a potent anti-inflammatory T-cell cytokine, has been shown to be a regulatory cytokine that is associated with disease remission in multiple sclerosis (MS) and exerts its activity through its cognate cell surface receptor complex, IL-10 receptor 1 (IL-10R1) and IL-10R2. The purpose of this study was to investigate the IL-10R1 S138G loss-of-function polymorphism (A536G: rs3135932) for possible influence on susceptibility and outcome of MS in Tunisian patients. A total of 103 Tunisian MS patients and 160 control subjects were studied...
February 22, 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28220389/polymorphisms-in-key-bone-modulator-cytokines-genes-influence-bisphosphonates-therapy-in-postmenopausal-women
#4
C A D Lima, N R Javorski, A P O Souza, A D Barbosa, A P M C Valença, S Crovella, P R E Souza, J De Azevedo Silva, P Sandrin-Garcia
Osteoporosis is a multifactorial and debilitating disease resulting from decreased bone mineral density (BMD) and loss of tissue microarchitecture. Ineffective therapies may lead to bone fractures and subsequent death. Single nucleotide polymorphisms (SNPs) in key immune regulator genes have been associated with therapeutic response to bisphosphonates, which are the first therapeutic line of choice for osteoporosis. However, cytokine pathways and their relation with therapeutic adhesion remain to be fully elucidated...
February 21, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/28219832/the-role-of-single-nucleotide-polymorphisms-contained-in-proinflammatory-cytokine-genes-in-the-development-of-congenital-infection-with-human-cytomegalovirus-in-fetuses-and-neonates
#5
Wioletta Wujcicka, Jan Wilczyński, Dorota Nowakowska
PURPOSE: The research project targeted the distribution of genotypes, alleles and haplotypes in single nucleotide polymorphisms (SNPs) within the interleukin (IL) 1A, IL1B, IL6, IL12B and TNFA genes, in fetuses and neonates, congenitally infected with human cytomegalovirus (HCMV), and among uninfected controls. METHODS: The study included 20 fetuses and neonates with congenital HCMV infection and 31 control individuals. The presence and amount of viral DNA was determined by real-time PCR assay for UL55 gene...
February 17, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28212655/elderly-onset-hereditary-pulmonary-alveolar-proteinosis-and-its-cytokine-profile
#6
Masayuki Ito, Kazuyuki Nakagome, Hiromitsu Ohta, Keiichi Akasaka, Yoshitaka Uchida, Atsushi Hashimoto, Ayako Shiono, Toshinori Takada, Makoto Nagata, Jun Tohyama, Koichi Hagiwara, Minoru Kanazawa, Koh Nakata, Ryushi Tazawa
BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by surfactant accumulation, and is caused by disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signaling. Abnormalities in CSF2 receptor alpha (CSF2RA) were reported to cause pediatric hereditary PAP. We report here the first case of CSF2RA-mutated, elderly-onset hereditary (h) PAP. CASE PRESENTATION: The patient developed dyspnea on exertion, and was diagnosed with PAP at the age of 77 years, based on findings from chest computed tomography scan and bronchoalveolar lavage...
February 17, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28207326/micro-rna-146a-but-not-irak1-is-associated-with-rheumatoid-arthritis-in-the-tunisian-population
#7
Hana Ben Hassine, Asma Boumiza, Rim Sghiri, Khadija Baccouche, Imen Boussaid, Ahlem Atig, Zahid Shakoor, Elyes Bouajina, Ramzi Zemni
BACKGROUND: Rheumatoid arthritis (RA) is characterized by the production of an array of proinflammatory cytokines through the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) signaling pathway. Interleukin-1 receptor (IL-1R) and Toll-like receptors contain a common cytoplasmic motif the Toll/IL-1R (TIR) homology domain. This motif is required for NF-κB activation. IL-1R-associated kinase 1 (IRAK1) is a key adapter molecule recruited during the signaling cascade of the TIR...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28202618/the-inflammatory-bowel-disease-associated-autophagy-gene-atg16l1t300a-acts-as-a-dominant-negative-variant-in-mice
#8
Ping Gao, Hongtao Liu, Huarong Huang, Qi Zhang, Warren Strober, Fuping Zhang
The basis of the increased risk for Crohn's disease conferred by the Atg16L1T300A polymorphism is incompletely understood. An important step forward came from the recent demonstration that the murine equivalent of Atg16L1T300A (Atg16L1T316A) exhibits increased susceptibility to caspase 3-mediated cleavage and resulting decreased levels of full-length Atg16L1 in macrophages. However, although this finding showed that this polymorphism is a loss-of-function abnormality, it did not address the possibility that this polymorphism also affects the function of a normal Atg16L1 allele in heterozygous mice...
February 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28185773/association-of-gene-polymorphisms-in-interleukin-6-in-infantile-bronchial-asthma
#9
Eva Babusikova, Jana Jurecekova, Milos Jesenak, Andrea Evinova
INTRODUCTION: The genetic background of bronchial asthma is complex, and it is likely that multiple genes contribute to its development both directly and through gene-gene interactions. Cytokines contribute to different aspects of asthma, as they determine the type, severity and outcomes of asthma pathogenesis. Allergic asthmatics undergoing an asthmatic attack exhibit significantly higher levels of pro-inflammatory cytokines, such as interleukins and chemokines. In recent years, cytokines and their receptors have been shown to be highly polymorphic, and this prompted us to investigate interleukin 6 promoter polymorphisms at position -174G/C (rs1800795) and at -572G/C (rs1800796) in relation to asthma in children...
February 6, 2017: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/28182609/genetic-polymorphisms-associated-with-liver-disease-progression-in-hiv-hcv-coinfected-patients
#10
Luz M Medrano, María A Jiménez-Sousa, Amanda Fernández-Rodríguez, Salvador Resino
The pathogenic mechanisms of the accelerated progression of liver injury in HIV/HCV coinfection are incompletely understood. The progression of liver disease is variable between individuals having similar risk factors, suggesting that genetic background is an important contributor. The aim of this review is to give a summary of all single nucleotide polymorphisms associated with the severity of liver disease in patients coinfected with HIV and HCV reported in the literature. Therefore, a systematic search for articles published was made, 17 of which were selected for this review...
January 2017: AIDS Reviews
https://www.readbyqxmd.com/read/28181496/haplotype-based-case-control-study-of-the-receptor-calcitonin-activity-modifying-protein-ramp-1-gene-in-essential-hypertension
#11
T Nakayama, T Nakazato, H Naruse, Z Fu, Z Wang, M Soma, T Hoshino, M Shimodaira, N Aoi
The adrenomedullin receptor is a complex molecule that comprises the calcitonin-receptor-like receptor (CRLR) and the receptor-activity-modifying protein (RAMP). RAMP1 is a vasodilation factor, and RAMP1-deficient mice (RAMP1(-/-)) exhibit inflammatory responses with a significant transient increase in serum calcitonin-gene-related peptide levels and proinflammatory cytokines when compared with RAMP1(+/+) mice. The purpose of the present study was to investigate the relationships between essential hypertension (EH) and RAMP1 gene single-nucleotide polymorphisms (SNPs) or haplotypes in a Japanese population via a case-control study...
February 9, 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/28177666/poly-adp-ribose-polymerase-1-parp-1-in-chinese-patients-with-graves-disease-and-graves-ophthalmopathy
#12
Tong Wu, Dong-Run Tang, Liang Zhao, Feng-Yuan Sun
We aimed to evaluate the genetic variation of poly (ADP-ribose) polymerase-1 (PARP-1) as risk factor in development of Graves' disease (GD) and Graves Ophthalmopathy (GO) among Chinese individuals. Patients with confirmed diagnosis of GD or healthy individuals with no clinical symptoms of hyperthyroiditis were enrolled at department of Ophthalmology, Tianjin First Center Hospital, China. Genetic polymorphism was studied in plasma DNA samples of subjects by polymererase chain reaction of restriction fragment length polymorphism to confirm test our hypothesis...
January 29, 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28164553/investigation-of-vegf-and-il-8-gene-polymorphisms-in-patients-with-differentiated-thyroid-cancer
#13
Ilhan Kilic, Sibel Guldiken, Tammam Sipahi, Orkide Palabiyik, Mustafa Akker, Ozlem Celik, Neslihan Soysal-Atile, Nermin Tuncbilek, Harun M Guven, A Sadi Gundogdu, Necdet Sut
BACKGROUND: Differentiated thyroid carcinomas (DTC) account for most of the thyroid cancers. The emergence of DTC may be affected by various predisposing genetic alterations and environmental factors The aim of this study was to investigate the role of VEGF C936T and IL-8 A251T gene polymorphisms in the pathogenesis and metastasis of differentiated thyroid cancer. METHODS: The study consisted of 101 patients DTC patients and 109 healthy controls. The parameters of the stage of cancer of the DTC patients at the time of diagnosis (TNM) were recorded...
December 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28164472/the-il15-96522-a-t-functional-polymorphism-is-related-to-the-differentiation-of-th17-cells-and-the-severity-of-hashimoto-s-disease
#14
Y Arakawa, M Watanabe, K Takemura, N Inoue, Y Hidaka, Y Iwatani
To clarify the association between the genetic producibility of IL-15, a pro-inflammatory cytokine, and the pathogenesis of autoimmune thyroid diseases (AITDs), we genotyped +96522 A>T and +82889 A>G polymorphisms in the IL15 gene using 127 patients with Hashimoto's disease (HD), including 55 patients with severe HD and 48 patients with mild HD; 130 patients with Graves' disease (GD), including 52 patients with intractable GD and 44 patients with GD in remission; and 79 healthy volunteers. Both the IL15 +96522 A allele and AA genotype were more frequent in patients with severe HD than in those with mild HD...
February 5, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28159384/single-nucleotide-polymorphisms-of-il-2-but-not-il-12-and-ifn-%C3%AE-are-associated-with-increased-susceptibility-to-chronic-spontaneous-urticaria
#15
M Movahedi, M Tavakol, F Rahmani, A A Amirzargar, A Z Bidoki, K Heidari, M Gharagozlou, A Aghamohammadi, M Nabavi, S Soltani, N Rezaei
BACKGROUND: A clear picture of interaction of Th1/Th2 cytokines in pathogenesis of chronic spontaneous urticaria (CSU), remains elusive. Impaired IFN-γ production and decreased levels of IL-2 have been reported. The aim of this study was to evaluate the association of Th1 cytokines; IL-2, IL-12 and IFN-γ polymorphisms with CSU. METHODS: 90 patients with CSU and 140 age-sex matched subjects were included in this study. DNA samples were evaluated through PCR-SSP assay in order to detect single nucleotide polymorphisms of IL-12 (A/C -1188) or (rs3212227), IFN-γ (A/T UTR5644) or (rs2069717) and IL-2 (G/T -330 and G/T +166) or (rs2069762 and rs2069763)...
February 1, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28157558/genetic-polymorphism-of-interleukin-10-a592c-among-oral-cancer-with-squamous-cell-carcinoma
#16
Prithvi Kumar Singh, Mohammad Kaleem Ahmad, Vijay Kumar, Rajni Gupta, Monica Kohli, Amita Jain, Abbas Ali Mahdi, Jaishri Bogra, Girish Chandra
OBJECTIVE: Interleukin-10 (IL-10) is a pleiotropic cytokine with either immunosuppressive or immunostimulative activities. It has been reported that in cancer, the promoter region polymorphism of IL-10 (-A592C) alters both the expression and serum levels of this cytokine. In the present study, we have addressed the question as to whether the single nucleotide polymorphisms (SNPs) at positions -592 A/C in the IL-10 gene promoter, could predispose an individual to oral squamous cell carcinoma (OSCC)...
January 7, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28157220/il1b-cgtc-haplotype-is-associated-with-colorectal-cancer-in-admixed-individuals-with-increased-african-ancestry
#17
María Carolina Sanabria-Salas, Gustavo Hernández-Suárez, Adriana Umaña-Pérez, Konrad Rawlik, Albert Tenesa, Martha Lucía Serrano-López, Myriam Sánchez de Gómez, Martha Patricia Rojas, Luis Eduardo Bravo, Rosario Albis, José Luis Plata, Heather Green, Theodor Borgovan, Li Li, Sumana Majumdar, Jone Garai, Edward Lee, Hassan Ashktorab, Hassan Brim, Li Li, David Margolin, Laura Fejerman, Jovanny Zabaleta
Single-nucleotide polymorphisms (SNPs) in cytokine genes can affect gene expression and thereby modulate inflammation and carcinogenesis. However, the data on the association between SNPs in the interleukin 1 beta gene (IL1B) and colorectal cancer (CRC) are conflicting. We found an association between a 4-SNP haplotype block of the IL1B (-3737C/-1464G/-511T/-31C) and CRC risk, and this association was exclusively observed in individuals with a higher proportion of African ancestry, such as individuals from the Coastal Colombian region (odds ratio, OR 2...
February 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28151895/association-between-il-1%C3%AE-polymorphisms-and-gastritis-risk-a-meta-analysis
#18
Xiaoming Sun, Hongxing Cai, Zhouru Li, Shanshan Li, Wenjiang Yin, Guokai Dong, Jinxia Kuai, Yihui He, Jing Jia
BACKGROUND: Helicobacter pylori (H. pylori) infection of the human stomach regularly leads to chronic gastric inflammation. The cytokine gene interleukin (IL)-1β has been implicated in influencing the pathology of inflammation induced by H. pylori infection. Currently, several studies have been carried out to investigate the association of IL-1β-511 (rs16944) and IL-1β-31 (rs1143627) polymorphisms with gastritis risk; however, the results are inconsistent and inconclusive. To assess the effect of IL-1β polymorphisms on gastritis susceptibility, we conducted a meta-analysis...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28151028/the-association-of-interleukin-16-gene-polymorphisms-with-il-16-serum-levels-and-risk-of-multiple-sclerosis
#19
Mehrdad Farrokhi, Aria Masoudifar, Ali Derakhshan, Samira Saadatmand, Hojjat Rouhi-Boroujeni, Masoud Etemadifar, Saeid Rezaei-Zarji, Ameneh Javid, Reza Nobakht, Mitra Deyhimi, Afagh Ekramnia, Milad Ebrahimi, Sajad Sheikh, Sadra Ansaripour, Ali Amani-Beni, Hamidreza Jahanbani-Ardakani
BACKGROUND: Multiple sclerosis (MS) is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS) that is immunologically mediated in genetically susceptible individuals. Interleukin-16 (IL-16), a pleiotropic cytokine, is an important regulator of T-cell activation which plays a key role in autoimmune diseases. Single-nucleotide polymorphisms (SNPs) in the IL-16 gene may lead to altered cytokine expression or biological activity, and these variations may modulate an individual's risk for MS...
February 2, 2017: Immunological Investigations
https://www.readbyqxmd.com/read/28150860/interleukin-10-family-cytokines-pathway-genetic-variants-and-psoriasis
#20
E Galimova, E Khusnutdinova, R Rätsep, T Traks, K Kingo, V Escott-Price, S Kõks
BACKGROUND: Interleukin (IL)-10 family cytokines IL-10, IL-19, IL-20, and IL-24 have been implicated in autoimmune diseases and we have previously reported that genetic variants in IL10 gene cluster were associated with psoriasis. OBJECTIVE: To analyze the relationship of genetic polymorphisms in the IL10 gene cluster with psoriasis. This study also explores whether there are gene-gene interactions among these genetic polymorphisms. METHODS: A total of 377 patients with psoriasis and 403 matched healthy controls were enrolled to carry out a case-control study for 48 SNPs of IL10 gene cluster...
February 2, 2017: British Journal of Dermatology
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