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Inflammatory disease genetics

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https://www.readbyqxmd.com/read/28433894/a-functional-snp-mcp-1-2518a-g-predispose-to-renal-disorder-in-indian-systemic-lupus-erythematosus-patients
#1
Vinod D Umare, Vandana D Pradhan, Anjali G Rajadhyaksha, Kanjaksha Ghosh, Anita H Nadkarni
Systemic Lupus Erythematosus (SLE) is a clinically heterogeneous chronic, inflammatory autoimmune disorder that affects multiple organs where exact etiology of the disease is not yet clearly understood. Various evidences suggest that genetic polymorphisms in inflammatory mediators like cytokines and chemokines may influence development of the disease. Here, we investigated whether functional polymorphism at the Monocyte Chemoattractant Protein-1 (MCP-1) regulatory region associates with disease phenotype in Indian SLE patients...
April 20, 2017: Cytokine
https://www.readbyqxmd.com/read/28432518/correlation-between-heavy-metal-exposure-and-gstm1-polymorphism-in-iranian-multiple-sclerosis-patients
#2
Mehdi Aliomrani, Mohammad A Sahraian, Hamid Shirkhanloo, Mohammad Sharifzadeh, Mohammad R Khoshayand, Mohammad H Ghahremani
Multiple sclerosis (MS) is an immune-mediated chronic inflammatory disease of the central nervous system. Various exposures to heavy metals can lead to toxicity and oxidative stress. While glutathione-S-transferases are known as oxidative stress-related genes and involved in metal biotransformation. The aim of the present study is to investigate the correlation of GSTM1 polymorphism in MS patients and the possible association with blood concentration of arsenic (As) and cadmium (Cd) as major heavy metal pollutants...
April 21, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28432351/early-measurement-of-il-10-predicts-the-outcomes-of-patients-with-acute-respiratory-distress-syndrome-receiving-extracorporeal-membrane-oxygenation
#3
Chia-Hsiung Liu, Shuenn-Wen Kuo, Wen-Je Ko, Pi-Ru Tsai, Shu-Wei Wu, Chien-Heng Lai, Chih-Hsien Wang, Yih-Sharng Chen, Pei-Lung Chen, Tze-Tze Liu, Shu-Chien Huang, Tzuu-Shuh Jou
Patients diagnosed with acute respiratory distress syndrome are generally severely distressed and associated with high morbidity and mortality despite aggressive treatments such as extracorporeal membrane oxygenation (ECMO) support. To identify potential biomarker of predicting value for appropriate use of this intensive care resource, plasma interleukin-10 along with relevant inflammatory cytokines and immune cell populations were examined during the early and subsequent disease courses of 51 critically ill patients who received ECMO support...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28431796/lessons-learned-from-twins-in-autoimmune-and-chronic-inflammatory-diseases
#4
REVIEW
Elena Generali, Angela Ceribelli, Maria Antonietta Stazi, Carlo Selmi
Autoimmunity and chronic inflammation recognize numerous shared factors and, as a result, the resulting diseases frequently coexist in the same patients or respond to the same treatments. Among the convenient truths of autoimmune and chronic inflammatory diseases, there is now agreement that these are complex conditions in which the individual genetic predisposition provides a rate of heritability. The concordance rates in monozygotic and dizygotic twins allows to estimate the weight of the environment in determining disease susceptibility, despite recent data supporting that only a minority of immune markers depend on hereditary factors...
April 18, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28431638/triglycerides-revisited-to-the-serial
#5
Paulo Ricardo Nazário Viecili, Brenda da Silva, Gabriela E Hirsch, Fernando G Porto, Mariana M Parisi, Alison R Castanho, Michele Wender, Jonatas Z Klafke
This review discusses the role of triglycerides (TGs) in the normal cardiovascular system as well as in the development and clinical manifestation of cardiovascular diseases. Regulation of TGs at the enzymatic and genetic level, in addition to their possible relevance as preclinical and clinical biomarkers, is discussed, culminating with a description of available and emerging treatments. Due to the high complexity of the subject and the vast amount of material in the literature, the objective of this review was not to exhaust the subject, but rather to compile the information to facilitate and improve the understanding of those interested in this topic...
2017: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/28431620/role-of-inflammatory-molecules-in-the-alzheimer-s-disease-progression-and-diagnosis
#6
REVIEW
Eva Bagyinszky, Vo Van Giau, Kyuhwan Shim, Kyoungho Suk, Seong Soo A An, SangYun Kim
Alzheimer's disease (AD) is a complex disorder and the most common form of neurodegenerative dementia. Several genetic, environmental, and physiological factors, including inflammations and metabolic influences, are involved in the progression of AD. Inflammations are composed of complicated networks of many chemokines and cytokines with diverse cells. Inflammatory molecules are needed for the protection against pathogens, and maintaining their balances is important for normal physiological function. Recent studies demonstrated that inflammation may be involved in neurodegenerative dementia...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28431241/akt-pkb-signaling-navigating-the-network
#7
REVIEW
Brendan D Manning, Alex Toker
The Ser and Thr kinase AKT, also known as protein kinase B (PKB), was discovered 25 years ago and has been the focus of tens of thousands of studies in diverse fields of biology and medicine. There have been many advances in our knowledge of the upstream regulatory inputs into AKT, key multifunctional downstream signaling nodes (GSK3, FoxO, mTORC1), which greatly expand the functional repertoire of AKT, and the complex circuitry of this dynamically branching and looping signaling network that is ubiquitous to nearly every cell in our body...
April 20, 2017: Cell
https://www.readbyqxmd.com/read/28428957/coordinating-regulation-of-gene-expression-in-cardiovascular-disease-interactions-between-chromatin-modifiers-and-transcription-factors
#8
REVIEW
Ashley J Bauer, Kathleen A Martin
Cardiovascular disease is a leading cause of death with increasing economic burden. The pathogenesis of cardiovascular diseases is complex, but can arise from genetic and/or environmental risk factors. This can lead to dysregulated gene expression in numerous cell types including cardiomyocytes, endothelial cells, vascular smooth muscle cells, and inflammatory cells. While initial studies addressed transcriptional control of gene expression, epigenetics has been increasingly appreciated to also play an important role in this process through alterations in chromatin structure and gene accessibility...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28428554/network-assisted-analysis-of-gwas-data-identifies-a-functionally-relevant-gene-module-for-childhood-onset-asthma
#9
Y Liu, M Brossard, C Sarnowski, A Vaysse, M Moffatt, P Margaritte-Jeannin, F Llinares-López, M H Dizier, M Lathrop, W Cookson, E Bouzigon, F Demenais
The number of genetic factors associated with asthma remains limited. To identify new genes with an undetected individual effect but collectively influencing asthma risk, we conducted a network-assisted analysis that integrates outcomes of genome-wide association studies (GWAS) and protein-protein interaction networks. We used two GWAS datasets, each consisting of the results of a meta-analysis of nine childhood-onset asthma GWASs (5,924 and 6,043 subjects, respectively). We developed a novel method to compute gene-level P-values (fastCGP), and proposed a parallel dense-module search and cross-selection strategy to identify an asthma-associated gene module...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28427473/intestinal-beh%C3%A3-et-and-crohn-s-disease-two-sides-of-the-same-coin
#10
REVIEW
Simona Valenti, Romina Gallizzi, Dominique De Vivo, Claudio Romano
Behçet's disease (BD) and Crohn's disease (CD) are chronic immune-mediated, inflammatory disorders affecting many different systems (joints, skin, eyes, gastrointestinal and biliary tracts). Both disorders have fluctuating courses and when gastrointestinal symptoms are prevalent, differential diagnosis can be difficult. BD involves the gastrointestinal tract in 10-15% of cases with localized lesions in the ileocecal region. The clinical picture is heterogeneous with various clusters of disease expression. CD is a chronic inflammatory disorder, which can affect any part of the intestinal tract, as well as extra-intestinal tissue...
April 20, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28426958/elucidating-the-role-of-trem2-in-alzheimer-s-disease
#11
REVIEW
Jason D Ulrich, Tyler K Ulland, Marco Colonna, David M Holtzman
Alzheimer's disease (AD) is the sixth leading cause of death in the United States and the most common cause of dementia in the elderly. Genetic factors, such as rare variants in the microglial-expressed gene TREM2, strongly impact the lifetime risk of developing AD. Several recent studies have described dramatic TREM2-dependent phenotypes in mouse models of amyloidosis that point to an important role for TREM2 in regulating the response of the innate immune system to Aβ pathology. Furthermore, elevations in the CSF levels of soluble TREM2 fragments implicate changes in inflammatory pathways as occurring coincident with markers of neuronal damage and the onset of clinical dementia in AD...
April 19, 2017: Neuron
https://www.readbyqxmd.com/read/28425585/eosinophilic-esophagitis-unclear-roles-of-ige-and-eosinophils
#12
C Blanchard, D Simon, A Schoepfer, A Straumann, H-U Simon
Eosinophilic esophagitis (EoE) is a chronic inflammatory disease of the oesophagus. Recognized as a distinct entity only two decades ago, the emergence of the disease along with the availability of new technologies has rapidly opened new research avenues and outlined the main features of the pathogenesis of EoE. Yet, each advance in our understanding of the disease has raised new questions about the previous consensus. Currently, new subsets of the disease challenge our diagnostic criteria. For instance, it was believed that EoE did not respond to proton pump inhibitor (PPI) therapy; however, it has now been shown that a substantial proportion of EoE patients indeed respond to PPIs...
May 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28424613/the-relationship-between-cerebral-small-vessel-disease-hippocampal-volume-and-cognitive-functioning-in-patients-with-copd-an-mri-study
#13
Fiona A H M Cleutjens, Rudolf W H M Ponds, Martijn A Spruit, Saartje Burgmans, Heidi I L Jacobs, Ed H B M Gronenschild, Julie Staals, Frits M E Franssen, Jeanette B Dijkstra, Lowie E G W Vanfleteren, Paul A Hofman, Emiel F M Wouters, Daisy J A Janssen
The neural correlates of cognitive impairment in chronic obstructive pulmonary disease (COPD) are not yet understood. Structural brain abnormalities could possibly be associated with the presence of cognitive impairment through cigarette smoke, inflammation, vascular disease, or hypoxemia in these patients. This study aimed to investigate whether macrostructural brain magnetic resonance imaging (MRI) features of cerebral small vessel disease (SVD) and hippocampal volume (HCV) are related to cognitive performance in patients with COPD...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28423679/association-of-il-1a-and-il-1b-polymorphisms-with-ankylosing-spondylitis-among-the-chinese-han-population-a-case-control-study
#14
Lei Li, Baolan Shi, Wenkai Zheng, Wenhua Xing, Yan Zhao, Feng Li, Daqi Xin, Tianbo Jin, Yong Zhu, Xuejun Yang
Ankylosing spondylitis (AS) is a complex and chronic inflammatory disease with a high heritage. Previous study has shown that IL-1A and IL-1B involved in inflammatory reaction. But little is known about single nucleotide polymorphisms (SNPs) of IL-1A and IL-1B associated with AS. We conducted a case-control study among 267 AS cases and 297 healthy controls from China. In the genetic model analysis, we found the "T" genotype of rs3783550 was associated with decreased AS risk in the dominant model (p = 0.044) and log-additive model (p = 0...
March 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28423466/zonulin-transgenic-mice-show-altered-gut-permeability-and-increased-morbidity-mortality-in-the-dss-colitis-model
#15
Craig Sturgeon, Jinggang Lan, Alessio Fasano
Increased small intestinal permeability (IP) has been proposed to be an integral element, along with genetic makeup and environmental triggers, in the pathogenies of chronic inflammatory diseases (CIDs). We identified zonulin as a master regular of intercellular tight junctions linked to the development of several CIDs. We aim to study the role of zonulin-mediated IP in the pathogenesis of CIDs. Zonulin transgenic Hp2 mice (Ztm) were subjected to dextran sodium sulfate (DSS) treatment for 7 days, followed by 4-7 days' recovery and compared to C57Bl/6 (wild-type (WT)) mice...
April 19, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28423169/innate-immune-response-to-lipooligosaccharide-pivotal-regulator-of-the-pathobiology-of-invasive-neisseria-meningitidis-infections
#16
Constance M John, Nancy J Phillips, Daniel C Stein, Gary A Jarvis
Infections due to Neisseria meningitidis afflict more than one million people worldwide annually and cause death or disability in many survivors. The clinical course of invasive infections has been well studied, but our understanding of the cause of differences in patient outcomes has been limited because these are dependent on multiple factors including the response of the host, characteristics of the bacteria and interactions between the host and the bacteria. The meningococcus is a highly inflammatory organism, and the lipooligosaccharide (LOS) on the outer membrane is the most potent inflammatory molecule it expresses due to the interactions of the lipid A moiety of LOS with receptors of the innate immune system...
April 1, 2017: Pathogens and Disease
https://www.readbyqxmd.com/read/28422780/understanding-the-gut-microbiota-in-inflammatory-and-functional-gastrointestinal-diseases
#17
Johanna Sundin, Lena Öhman, Magnus Simren
OBJECTIVE: During the last decade experimental and observational studies have shown that patients with Inflammatory Bowel Disease (IBD) and Irritable Bowel Syndrome (IBS) may have an altered intestinal microbial composition compared to healthy subjects. However, no uniform microbial signature has as yet been detected for either IBD or IBS. This review summarizes the current knowledge of microbial dysbiosis, and its potential relationship to the pathophysiology in IBD and IBS. METHODS: A selective review was conducted to summarize the current knowledge of gut microbiota in the pathophysiology of IBD and IBS...
April 18, 2017: Psychosomatic Medicine
https://www.readbyqxmd.com/read/28422118/nutrient-regulation-of-%C3%AE-cell-function-what-do-islet-cell-animal-studies-tell-us
#18
REVIEW
R Carlessi, K N Keane, C Mamotte, P Newsholme
Diabetes mellitus is widely recognised as one of the most serious metabolic diseases worldwide, and its incidence in Asian countries is growing at an alarming rate. Type 2 diabetes (T2DM) is closely associated with age, sedentary lifestyle and poor diet. In T2DM, β-cell dysfunction will occur before hyperglycaemia develops. Excessive levels of glucose, lipid and various inflammatory factors interact at the level of the pancreatic islet to promote β-cell dysfunction. Pancreatic β-cell lines have been widely utilised since the early 1980s and have contributed a large volume of important information regarding molecular, metabolic and genetic mechanisms that regulate insulin secretion...
April 19, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28421864/selfie-autoimmunity
#19
Haseeb Ahsan
The immune system provides protection to tissues damaged by infectious microrganisms or physical damage. In autoimmune diseases, the immune system recognizes and attacks its own tissues i.e., self-destruction. Various agents such as genetic factors and environmental triggers are thought to play a major role in the development of autoimmune diseases. A common feature of all autoimmune diseases is the presence of autoantibodies and inflammation, including mononuclear phagocytes, autoreactive T lymphocytes and autoantibody producing B cells (plasma cells)...
April 19, 2017: Journal of Immunoassay & Immunochemistry
https://www.readbyqxmd.com/read/28421634/vagus-nerve-stimulation-a-new-promising-therapeutic-tool-in-inflammatory-bowel-disease
#20
B Bonaz, V Sinniger, S Pellissier
Inflammatory bowel disease (IBD), that is Crohn's disease (CD) and ulcerative colitis, affects about 1.5 million persons in the USA and 2.2 million in Europe. The pathophysiology of IBD involves immunological, genetic and environmental factors. The treatment is medico-surgical but suspensive. Anti-TNFα agents have revolutionized the treatment of IBD but have side effects. In addition, a non-negligible percentage of patients with IBD stop or take episodically their treatment. Consequently, a nondrug therapy targeting TNFα through a physiological pathway, devoid of major side effects and with a good cost-effectiveness ratio, would be of interest...
April 18, 2017: Journal of Internal Medicine
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