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Inflammatory disease genetics

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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
#1
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/27904144/causes-and-consequences-of-endoplasmic-reticulum-stress-in-rheumatic-disease
#2
REVIEW
Fatemeh Navid, Robert A Colbert
Rheumatic diseases represent a heterogeneous group of inflammatory conditions, many of which involve chronic activation of both innate and adaptive immune responses by multiple genetic and environmental factors. These immune responses involve the secretion of excessive amounts of cytokines and other signalling mediators by activated immune cells. The endoplasmic reticulum (ER) is the cellular organelle that directs the folding, processing and trafficking of membrane-bound and secreted proteins, including many key components of the immune response...
December 1, 2016: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/27903283/systematic-analysis-of-chromatin-interactions-at-disease-associated-loci-links-novel-candidate-genes-to-inflammatory-bowel-disease
#3
Claartje A Meddens, Magdalena Harakalova, Noortje A M van den Dungen, Hassan Foroughi Asl, Hemme J Hijma, Edwin P J G Cuppen, Johan L M Björkegren, Folkert W Asselbergs, Edward E S Nieuwenhuis, Michal Mokry
BACKGROUND: Genome-wide association studies (GWAS) have revealed many susceptibility loci for complex genetic diseases. For most loci, the causal genes have not been identified. Currently, the identification of candidate genes is predominantly based on genes that localize close to or within identified loci. We have recently shown that 92 of the 163 inflammatory bowel disease (IBD)-loci co-localize with non-coding DNA regulatory elements (DREs). Mutations in DREs can contribute to IBD pathogenesis through dysregulation of gene expression...
November 30, 2016: Genome Biology
https://www.readbyqxmd.com/read/27899914/how-useful-are-monogenic-rodent-models-for-the-study-of-human-non-alcoholic-fatty-liver-disease
#4
REVIEW
Jake P Mann, Robert K Semple, Matthew J Armstrong
Improving understanding of the genetic basis of human non-alcoholic fatty liver disease (NAFLD) has the potential to facilitate risk stratification of affected patients, permit personalized treatment, and inform development of new therapeutic strategies. Animal models have been widely used to interrogate the pathophysiology of, and genetic predisposition to, NAFLD. Nevertheless, considerable interspecies differences in intermediary metabolism potentially limit the extent to which results can be extrapolated to humans...
2016: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/27899484/lack-of-cul4b-in-adipocytes-promotes-ppar%C3%AE-mediated-adipose-tissue-expansion-and-insulin-sensitivity
#5
Peishan Li, Yu Song, Wenying Zan, Liping Qin, Shuang Han, Baichun Jiang, Hao Dou, Changshun Shao, Yaoqin Gong
Obesity and obesity-associated diseases are linked to dysregulation of peroxisome proliferator-activated receptor γ (PPARγ) signaling pathway. Identification of the factors that regulate PPARγ expression and activity is crucial for combating obesity. However, the ubiquitin E3 ligases that target PPARγ for proteasomal degradation have been rarely identified and their functions in vivo have not been characterized. Here we report that CUL4B-RING E3 ligase (CRL4B) negatively regulates PPARγ by promoting its polyubiquitination and proteasomal degradation...
November 29, 2016: Diabetes
https://www.readbyqxmd.com/read/27898568/whole-exome-sequencing-to-identify-novel-biological-pathways-associated-with-infertility-after-pelvic-inflammatory-disease
#6
Brandie D Taylor, Xiaojing Zheng, Toni Darville, Wujuan Zhong, Kranti Konganti, Olayinka Abiodun-Ojo, Roberta B Ness, Catherine M O'Connell, Catherine L Haggerty
BACKGROUND: Ideal management of sexually transmitted infections (STI) may require risk markers for pathology or vaccine development. Previously, we identified common genetic variants associated with chlamydial pelvic inflammatory disease (PID) and reduced fecundity. As this explains only a proportion of the long-term morbidity risk, we used whole-exome sequencing to identify biological pathways that may be associated with STI-related infertility. METHODS: We obtained stored DNA from 43 non-Hispanic black women with PID from the PID Evaluation and Clinical Health Study...
November 28, 2016: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/27895843/severe-anemia-in-malawian-children
#7
Job Cj Calis, Kamija S Phiri, E Brian Faragher, Bernard J Brabin, Imelda Bates, Luis E Cuevas, Rob J de Haan, Ajib I Phiri, Pelani Malange, Mirriam Khoka, Paul Jm Hulshof, Lisette van Lieshout, Marcel Ghm Beld, Yik Y Teo, Kirk A Rockett, Anna Richardson, Dominic P Kwiatkowski, Malcolm E Molyneux, Michaël Boele van Hensbroek
BACKGROUND: Severe anemia is a major cause of sickness and death in African children, yet the causes of anemia in this population have been inadequately studied. METHODS: We conducted a case-control study of 381 preschool children with severe anemia (hemoglobin concentration, <5.0 g per deciliter) and 757 preschool children without severe anemia in urban and rural settings in Malawi. Causal factors previously associated with severe anemia were studied. The data were examined by multivariate analysis and structural equation modeling...
September 2016: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/27895399/altered-pattern-of-tumor-necrosis-factor-alpha-production-in-peripheral-blood-monocytes-from-crohn-s-disease
#8
Claudia Loganes, Alessia Pin, Samuele Naviglio, Martina Girardelli, Anna Monica Bianco, Stefano Martelossi, Alberto Tommasini, Elisa Piscianz
AIM: To evaluate the inflammatory state in Crohn's disease (CD) patients and correlate it with genetic background and microbial spreading. METHODS: By means of flow cytometry, production of tumor necrosis factor-alpha (TNF-α) was measured in peripheral blood monocytes from patients suffering from CD, ulcerative colitis (UC) and in healthy subjects after stimulation of the NOD2 and TLR pathways. CD patients were genotyped for the three most common NOD2 variants (R702W, G908R and L1007Pfs*2) and basal production of TNF-α was correlated to NOD2 genotype...
November 7, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27894445/usual-and-unusual-manifestations-of-systemic-and-central-nervous-system-vasculitis
#9
REVIEW
James J Nocton
The idiopathic vasculitides are a group of inflammatory and immune-mediated conditions associated with inflammation of blood vessels. They affect multiple organ and body systems, and vary in their clinical manifestations, severity, prognosis, and pathology. They frequently present a diagnostic challenge for clinicians because of their complexity, overlapping features, and similar findings to other noninflammatory, genetic, or infectious conditions. This article summarizes some of the common pediatric vasculitides, emphasizing both the characteristic and unusual clinical manifestations of these diseases...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894441/nonclassic-inflammatory-bowel-disease-in-young-infants-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome-and-other-disorders
#10
REVIEW
Shanmuganathan Chandrakasan, Suresh Venkateswaran, Subra Kugathasan
This article discusses non-classical forms of inflammatory bowel disease (IBD) mainly occurs in infants and very young children. Defects in every aspect of the immune system, such as neutrophils, T-cell and B-cell lymphocytes, and macrophages are associated with IBD in infants. Also, non lympho-hematopoietic defects with primary defects in enterocytes can also lead to IBD-like manifestations. Clinical vignettes are presented and the genetic origins and possible management strategies are outlined. Early evaluation of these patients is important because identification of underlying immune defects would facilitate the use of better-targeted therapy for the specific genetic defect...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894337/intestinal-dysbiosis-is-common-in-systemic-sclerosis-and-associated-with-gastrointestinal-and-extraintestinal-features-of-disease
#11
Kristofer Andréasson, Zaid Alrawi, Anita Persson, Göran Jönsson, Jan Marsal
BACKGROUND: Recent evidence suggests a link between autoimmunity and the intestinal microbial composition in several rheumatic diseases including systemic sclerosis (SSc). The objective of this study was to investigate the prevalence of intestinal dysbiosis in SSc and to characterise patients suffering from this potentially immunomodulatory deviation. METHODS: This study consisted of 98 consecutive patients subject to in-hospital care. Stool samples were analysed for intestinal microbiota composition using a validated genome-based microbiota test (GA-map™ Dysbiosis Test, Genetic Analysis, Oslo, Norway)...
November 29, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27893544/visceral-adiposity-genetic-susceptibility-and-risk-of-complications-among-individuals-with-crohn-s-disease
#12
Kimberley W J Van Der Sloot, Amit D Joshi, Danielle R Bellavance, Katherine K Gilpin, Kathleen O Stewart, Paul Lochhead, John J Garber, Cosmas Giallourakis, Vijay Yajnik, Ashwin N Ananthakrishnan, Behrooz Z Alizadeh, Ramnik J Xavier, Hamed Khalili
INTRODUCTION: Adipose tissue in mesenteric fat plays a key role in systemic and luminal inflammation. However, little is known about the role of visceral adipose tissue (VAT) and its interaction with genetic predisposition in Crohn's disease (CD) progression. METHODS: Our study population included patients with CD enrolled in Prospective Registry in Inflammatory Bowel Disease Study at Massachusetts General Hospital (PRISM). VAT volume was measured from computed tomography using Aquarius 3D...
November 22, 2016: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/27891353/association-of-c-reactive-protein-rs1205-gene-polymorphism-with-susceptibility-to-psoriasis-in-south-indian-tamils
#13
Anjana Sudhesan, Medha Rajappa, Laxmisha Chandrashekar, Palghat Hariharan Ananthanarayanan, Devinder Mohan Thappa, Santhosh Satheesh, Adithan Chandrasekaran, Panneer Devaraju
INTRODUCTION: Psoriasis is a multi-factorial heritable T-helper Th-1/Th-17 mediated inflammatory disease, affecting the skin. It is associated with co-morbidities such as Cardiovascular Disease (CVD). C-Reactive Protein (CRP) is a good inflammatory marker. CRP rs1205 polymorphism is associated with circulating plasma CRP levels. Although there is association between the rs1205 Single Nucleotide Polymorphism (SNP) and CVD, there are no prior reports regarding the association of CRP rs1205 SNP with psoriasis susceptibility...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27890033/il-8-il-17-gene-variations-and-the-susceptibility-to-severe-viral-bronchiolitis
#14
L A Pinto, L A DE Azeredo Leitão, M Mocellin, P Acosta, M T Caballero, R Libster, J E Vargas, F Polack, T Comaru, R T Stein, A P DE Souza
Clinical manifestations of acute bronchiolitis (AB) vary from minimal disease to severe respiratory failure. The response to respiratory viral infections is possibly influenced by genetic polymorphisms linked to the regulation of the inflammatory response. In the present study, we investigated whether interleukin-8 (IL-8) and interleukin-17 (IL-17) genetic variants are associated with the severity of AB. A group of Brazilian infants hospitalized with AB and a control group (infants with no or mild AB, without hospitalization) were genotyped for four IL-8/IL-17 variations...
November 28, 2016: Epidemiology and Infection
https://www.readbyqxmd.com/read/27889479/ido1-is-an-integral-mediator-of-inflammatory-neovascularization
#15
Arpita Mondal, Courtney Smith, James B DuHadaway, Erika Sutanto-Ward, George C Prendergast, Arturo Bravo-Nuevo, Alexander J Muller
The immune tolerogenic effects of IDO1 (indoleamine 2,3-dioxygenase 1) have been well documented and genetic studies in mice have clearly established the significance of IDO1 in tumor promotion. Dichotomously, the primary inducer of IDO1, the inflammatory cytokine IFNγ (interferon-γ), is a key mediator of immune-based tumor suppression. One means by which IFNγ can exert an anti-cancer effect is by decreasing tumor neovascularization. We speculated that IDO1 might contribute to cancer promotion by countering this anti-neovascular effect of IFNγ, possibly through IDO1-potentiated elevation of the pro-tumorigenic inflammatory cytokine IL6 (interleukin-6)...
November 9, 2016: EBioMedicine
https://www.readbyqxmd.com/read/27889463/noncanonical-fungal-autophagy-inhibits-inflammation-in-response-to-ifn-%C3%AE-via-dapk1
#16
Vasilis Oikonomou, Silvia Moretti, Giorgia Renga, Claudia Galosi, Monica Borghi, Marilena Pariano, Matteo Puccetti, Carlo A Palmerini, Lucia Amico, Alessandra Carotti, Lucia Prezioso, Angelica Spolzino, Andrea Finocchi, Paolo Rossi, Andrea Velardi, Franco Aversa, Valerio Napolioni, Luigina Romani
Defects in a form of noncanonical autophagy, known as LC3-associated phagocytosis (LAP), lead to increased inflammatory pathology during fungal infection. Although LAP contributes to fungal degradation, the molecular mechanisms underlying LAP-mediated modulation of inflammation are unknown. We describe a mechanism by which inflammation is regulated during LAP through the death-associated protein kinase 1 (DAPK1). The ATF6/C/EBP-β/DAPK1 axis activated by IFN-γ not only mediates LAP to Aspergillus fumigatus but also concomitantly inhibits Nod-like receptor protein 3 (NLRP3) activation and restrains pathogenic inflammation...
November 16, 2016: Cell Host & Microbe
https://www.readbyqxmd.com/read/27889190/diagnosis-of-multiple-sclerosis-progress-and-challenges
#17
REVIEW
Wallace J Brownlee, Todd A Hardy, Franz Fazekas, David H Miller
The diagnosis of multiple sclerosis is based on neurological symptoms and signs, alongside evidence of dissemination of CNS lesions in space and time. MRI is often sufficient to confirm the diagnosis when characteristic lesions accompany a typical clinical syndrome, but in some patients, further supportive information is obtained from cerebrospinal fluid examination and neurophysiological testing. Differentiation is important from other diseases in which demyelination is a feature (eg, neuromyelitis optica spectrum disorder and acute disseminated encephalomyelitis) and from non-demyelinating disorders such as chronic small vessel disease and other inflammatory, granulomatous, infective, metabolic, and genetic causes that can mimic multiple sclerosis...
November 23, 2016: Lancet
https://www.readbyqxmd.com/read/27888861/inflammatory-bowel-disease-in-digestive-disease-week-2016-advances-in-epidemiology-follow-up-treatment-monitoring-optimisation-and-individual-tailoring-and-colon-cancer-prevention
#18
Santiago García-López
In Digestive Disease Week 2016, interesting data were presented on the eventual role of certain foods in inflammatory bowel disease, although the value of these data is relative. Also of interest were epidemiological studies, of which several analysed the natural history of the disease. Some presentations dealt with the search for individual predictive factors, a pressing need in clinical practice. Unfortunately, some of the findings presented were of dubious value. A study suggesting that a simple parameter as increased blood monocytes could be a clear predictive factor of poor outcome could perhaps be highlighted (the results were striking but had multiple limitations)...
September 2016: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/27888053/current-understanding-of-atherogenesis
#19
REVIEW
Richard A Brown, Eduard Shantsila, Chetan Varma, Gregory Y H Lip
Scientific understanding of atherogenesis is constantly developing. From Virchow's observations 160 years ago we now recognise the endothelial response to injury to as inflammatory, involved in all stages of atherosclerosis. Endothelial activation may cause reversible injury or dysfunction, or lead to irreparable damage. Indeed, early atherosclerosis is reversible. The introduction of genome-wide association testing has furthered the identification of potentially important genetic variants that help explain the heritability coronary artery disease as well as spontaneous cases of severe coronary artery disease in patients with otherwise minimal risk factors...
November 22, 2016: American Journal of Medicine
https://www.readbyqxmd.com/read/27886801/approach-to-the-patients-with-inadequate-response-to-colchicine-in-familial-mediterranean-fever
#20
REVIEW
Ahmet Gül
Familial Mediterranean fever (FMF) is the most common form of monogenic autoinflammatory conditions, and response to colchicine has been considered as one of its distinctive features among other hereditary periodic fever disorders. Prophylactic colchicine has been shown to be effective in the prevention of inflammatory attacks and development of amyloidosis. However, the highest tolerable doses of colchicine may not be adequate enough to manage these goals in approximately 5% of FMF patients. Inadequate response to colchicine in fully compliant FMF patients may be associated with genetic and/or environmental factors affecting disease severity and colchicine bioavailability...
April 2016: Best Practice & Research. Clinical Rheumatology
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