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Inflammatory disease genetics

James P Strassner, John E Harris
Vitiligo is an autoimmune disease of the skin that leads to life-altering depigmentation and remains difficult to treat. However, clinical observations and translational studies over 30-40 years have led to the development of an insightful working model of disease pathogenesis: Genetic risk spanning both immune and melanocyte functions is pushed over a threshold by known and suspected environmental factors to initiate autoimmune T cell-mediated killing of melanocytes. While under cellular stress, melanocytes appear to signal innate immunity to activate T cells...
October 17, 2016: Current Opinion in Immunology
Hui Han, Jinzhou Zhu, Yaqiong Wang, Zhengbin Zhu, Yanjia Chen, Lin Lu, Wei Jin, Xiaoxiang Yan, Ruiyan Zhang
Renal fibrosis is a significant threat to public health globally. Diverse primary aetiologies eventually result in chronic kidney disease (CKD) and immune cells influence this process. The roles of monocytes/macrophages, T cells and mast cells have been carefully examined, whilst only a few studies have focused on the effect of B cells. We investigated B cell function in tubulointerstitial fibrosis induced by unilateral ureteral obstruction (UUO), using genetic B cell-deficient μMT mice or CD20 antibody-mediated B cell depleted mice...
October 20, 2016: Journal of Pathology
Joshua B Lewis, Dallin C Milner, Adam L Lewis, Todd M Dunaway, Kaleb M Egbert, Scott C Albright, Brigham J Merrell, Troy D Monson, Dallin S Broberg, Jason R Gassman, Daniel B Thomas, Juan A Arroyo, Paul R Reynolds
It has long been understood that increased epithelial permeability contributes to inflammation observed in many respiratory diseases. Recently, evidence has revealed that environmental exposure to noxious material such as cigarette smoke reduces tight junction barrier integrity, thus enhancing inflammatory conditions. Claudin-6 (Cldn6) is a tetraspanin transmembrane protein found within the tight junctional complex and is implicated in maintaining lung epithelial barriers. To test the hypothesis that increased Cldn6 ameliorates inflammation at the respiratory barrier, we utilized the Tet-On inducible transgenic system to conditionally over-express Clnd6 in the distal lung...
October 17, 2016: International Journal of Environmental Research and Public Health
Gamal Allam, Imad A A Mohamed, Khaled A Alswat, Said H Abbadi, Raad Nassif, Bader J Alharthi, Amre Nasr
Tuberculosis (TB) considers one of the most common infectious diseases all over the world. IL-37, a novel member of the IL-1 family, exhibits anti-inflammatory activities. Various cytokine genes polymorphisms have been reported to be associated with susceptibility to TB infection. However, association between genetic variations in the IL-37 gene with susceptibility to TB infection is not known. Therefore, the aim of this investigation was to identify the association of IL-37 genetic polymorphisms with TB infection in Saudi population...
October 20, 2016: Microbiology and Immunology
Balaji K Tamarappoo, Allan L Klein
Post-pericardiotomy syndrome (PPS) occurs in a subgroup of patients who have undergone cardiothoracic surgery and is characterized by fever, pleuritic pain, pleural effusion, and pericardial effusion. It is associated with significant morbidity, and the leading complications include tamponade and constrictive pericarditis. Epidemiologic studies have found that PPS often occurs among younger patients; however, there is a lack of comprehensive risk stratification. It is therefore important to be able to identify patients who are at high risk for developing this disease...
November 2016: Current Cardiology Reports
Sentaro Imamura, Shintaro Narita, Ryuta Nishikomori, Hiroshi Tsuruta, Kazuyuki Numakura, Atsushi Maeno, Mitsuru Saito, Takamitsu Inoue, Norihiko Tsuchiya, Hiroshi Nanjo, Toshio Heike, Shigeru Satoh, Tomonori Habuchi
BACKGROUND: Secondary bladder amyloidosis is an extremely rare disease, resulting from a chronic systematic inflammatory disorder associated with amyloid deposits. Although uncommon in Japan, familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent episodes of fever of short duration and serositis and is frequently associated with systemic amyloidosis. Here, we present a case of a Japanese patient complaining of fever and macroscopic hematuria after a living donor renal transplantation...
October 19, 2016: BMC Research Notes
Meriem Slaoui, Fatima Zahra Mouh, Imane Ghanname, Rachid Razine, Mohammed El Mzibri, Mariam Amrani
BACKGROUND: Breast cancer in young women is quite uncommon and shows more aggressive characteristics with major disparities between worldwide populations. Prognosis and outcome of breast cancer in young patients are widely studied, but still no consensus is available. METHODS: We retrospectively included 716 cases of breast cancer women diagnosed in 2009 at the National Institute of Oncology of Rabat. Patients were divided into two groups according to their age: women aged ≤40 years (Group 1) and women aged >40 years (Group 2)...
2016: PloS One
Ajit Dash, Robert A Figler, Arun J Sanyal, B R Wamhoff
Drug induced steatohepatitis (DISH), a form of drug induced liver injury (DILI) is characterized by intracellular accumulation of lipids in hepatocytes and subsequent inflammatory events, in some ways similar to the pathology seen with other metabolic, viral and genetic causes of non alcoholic fatty liver disease and steatohepatitis (NAFLD and NASH). Areas covered: This paper provides a comprehensive review of the main underlying mechanisms by which various drugs cause DISH, and outlines existing preclinical tools to predict it and study underlying pathways involved...
October 19, 2016: Expert Opinion on Drug Metabolism & Toxicology
Petra Rust, Cem Ekmekcioglu
Excessive dietary salt (sodium chloride) intake is associated with an increased risk for hypertension, which in turn is especially a major risk factor for stroke and other cardiovascular pathologies, but also kidney diseases. Besides, high salt intake or preference for salty food is discussed to be positive associated with stomach cancer, and according to recent studies probably also obesity risk. On the other hand a reduction of dietary salt intake leads to a considerable reduction in blood pressure, especially in hypertensive patients but to a lesser extent also in normotensives as several meta-analyses of interventional studies have shown...
October 19, 2016: Advances in Experimental Medicine and Biology
Yaíma L Lightfoot, Mariana J Kaplan
PURPOSE OF REVIEW: A breakdown of immune tolerance to self-antigens in a genetically predisposing background, precipitated by environmental triggers, contributes to the development of systemic autoimmune diseases. Renewed interest in the immunomodulatory capabilities of neutrophils in systemic autoimmunity has identified neutrophil extracellular trap (NET) formation as a distinguishing action of neutrophils in afflicted hosts. RECENT FINDINGS: Oxidation of nucleic acids and posttranslational modifications of proteins distinctly occur during NET formation and may promote enhanced immunogenicity...
October 13, 2016: Current Opinion in Rheumatology
Susann Pankratz, Stefan Bittner, Beate E Kehrel, Harald F Langer, Christoph Kleinschnitz, Sven G Meuth, Kerstin Göbel
Beyond their indispensable role in hemostasis, platelets have shown to affect the development of inflammatory disorders, as they have been epidemiologically and mechanistically linked to diseases featuring an inflammatory reaction in inflammatory diseases like multiple sclerosis, rheumatoid arthritis and inflammatory bowel disorders. The identification of novel molecular mechanisms linking inflammation and to platelets has highlighted them as new targets for therapeutic interventions. In particular, genetic and pharmacological studies have identified an important role for platelets in neuroinflammation...
October 14, 2016: International Journal of Molecular Sciences
Valerie Collij, Eleonora A M Festen, Rudi Alberts, Rinse K Weersma
BACKGROUND: Currently, 200 genetic risk loci have been identified for inflammatory bowel disease (IBD). Although these findings have significantly advanced our insight into IBD biology, there has been little progress in translating this knowledge toward clinical practice, like more cost-efficient drug development. Our aim was to use genetic knowledge to identify drugs that warrant further investigation in IBD treatment. METHODS: We hypothesized that proteins encoded by IBD candidate genes are potential IBD drug targets because genetic information can increase successful drug identification...
November 2016: Inflammatory Bowel Diseases
Frauke Degenhardt, Andrea Dirmeier, Rocio Lopez, Sylvia Lang, Claudia Kunst, Dirk Roggenbuck, Dirk Reinhold, Silke Szymczak, Gerhard Rogler, Frank Klebl, Andre Franke, Florian Rieder
BACKGROUND: The presentation of Crohn's disease (CD) is heterogeneous and often leads to serious complications and need for surgery. We tested serum anti-zymogen granule glycoprotein 2 (GP2) antibodies, including its novel isoform alpha, for association with genetic variants, diagnosis, disease stratification, and prediction of CD courses in a combined cross-sectional and cohort study. METHODS: Serum samples of 303 CD, 108 ulcerative colitis, 72 other inflammatory gastrointestinal diseases, and 206 controls without predominant gastrointestinal diseases controls (HC) were tested for the presence of Anti-GP2 and Anti-Saccharomyces cervisiae (ASCA) by enzyme-linked immunosorbent assay...
November 2016: Inflammatory Bowel Diseases
C M Mariaselvam, C Fortier, D Charron, R Krishnamoorthy, R Tamouza, V S Negi
Rheumatoid arthritis (RA) is a complex multifactorial autoimmune disease characterized by inflammatory arthritis. The precise etiology and pathogenesis of RA remains elusive but evidence points towards stochastic interactions between genetic and environmental factors. This study investigated the distribution of human leucocyte antigen (HLA)-DRB1/DQB1 alleles in South Indian patients with rheumatoid arthritis (RA) and their influence on RA susceptibility and clinical phenotype. Low resolution HLA-DRB1 and -DQB1 typing was performed in 271 RA patients and 233 healthy controls by polymerase chain reaction (PCR) using sequence-specific primers (SSP)...
November 2016: HLA
Richard J Lin, Catherine S Diefenbach
Hodgkin lymphoma is a unique disease entity characterized by a low number of neoplastic tumor cells surrounded by an inflammatory microenvironment composed of dysfunctional immune cells. Recent molecular and genetic studies have revealed that upregulation of the immune checkpoint pathway programmed death 1/programmed death ligand 1 is a key oncogenic driver of Hodgkin lymphoma. Corroborating these mechanistic studies, early-phase clinical trials using the checkpoint inhibitors nivolumab and pembrolizumab in treatment regimens for relapsed and/or refractory Hodgkin lymphoma have demonstrated impressive response rates, a promising durability of response, and a favorable side-effect profile...
October 15, 2016: Oncology (Williston Park, NY)
Meghan MacKenzie, Richard Hall
PURPOSE: Knowledge of how alterations in pharmacogenomics and pharmacogenetics may affect drug therapy in the intensive care unit (ICU) has received little study. We review the clinically relevant application of pharmacogenetics and pharmacogenomics to drugs and conditions encountered in the ICU. SOURCE: We selected relevant literature to illustrate the important concepts contained within. PRINCIPAL FINDINGS: Two main approaches have been used to identify genetic abnormalities - the candidate gene approach and the genome-wide approach...
October 17, 2016: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
Francesco Russo, Guglielmina Chimienti, Michele Linsalata, Caterina Clemente, Antonella Orlando, Giuseppe Riezzo
BACKGROUND: Ghrelin levels and obestatin/ghrelin ratio have been proposed as activity markers in ulcerative colitis, but no data are available in celiac disease (CD) and irritable bowel syndrome (IBS). Our aims were as follows: (a) to assess obestatin and ghrelin concentrations in adult active CD patients, diarrhea-predominant IBS (IBS-d), and healthy controls (HC) in relation to intestinal permeability; (b) to evaluate the ghrelin-obestatin profile in CD patients after a 1-year gluten-free diet (GFD); and (c) to establish the impact of ghrelin genetics...
October 12, 2016: European Journal of Gastroenterology & Hepatology
Hua Jing, Jun-Xia Zhu, Hui-Fu Wang, Wei Zhang, Zhan-Jie Zheng, Ling-Li Kong, Chen-Chen Tan, Zi-Xuan Wang, Lin Tan, Lan Tan
Inositol polyphosphate-5-phosphatase (INPP5D) was reported to be associated with Alzheimer's disease (AD) through modulating the inflammatory process and immune response. A recent genome-wide association study discovered a new locus single nucleotide polymorphism (SNP, rs35349669) of INPP5D which was significantly associated with susceptibility to late-onset Alzheimer's disease (LOAD) in Caucasians. In this study, we investigated the relations between the INPP5D polymorphism rs35349669 and LOAD in Han Chinese population comprising 984 LOAD cases and 1352 healthy controls being matched for age and gender...
October 13, 2016: Oncotarget
Anahita Javaheri, Tobias Kruse, Kristof Moonens, Raquel Mejías-Luque, Ayla Debraekeleer, Carmen I Asche, Nicole Tegtmeyer, Behnam Kalali, Nina C Bach, Stephan A Sieber, Darryl J Hill, Verena Königer, Christof R Hauck, Roman Moskalenko, Rainer Haas, Dirk H Busch, Esther Klaile, Hortense Slevogt, Alexej Schmidt, Steffen Backert, Han Remaut, Bernhard B Singer, Markus Gerhard
Helicobacter pylori specifically colonizes the human gastric epithelium and is the major causative agent for ulcer disease and gastric cancer development. Here, we identify members of the carcinoembryonic antigen-related cell adhesion molecule (CEACAM) family as receptors of H. pylori and show that HopQ is the surface-exposed adhesin that specifically binds human CEACAM1, CEACAM3, CEACAM5 and CEACAM6. HopQ-CEACAM binding is glycan-independent and targeted to the N-domain. H. pylori binding induces CEACAM1-mediated signalling, and the HopQ-CEACAM1 interaction enables translocation of the virulence factor CagA into host cells and enhances the release of pro-inflammatory mediators such as interleukin-8...
October 17, 2016: Nature Microbiology
Emire Seyahi
PURPOSE OF REVIEW: Takayasu arteritis has long been considered as an uncommon disease, rather specific to the Far-East; however recent surveys show that the disease can be seen in all ethnicities around the world with increasing prevalence rates. Nowadays, it would not be fair to consider Takayasu arteritis as a rare disease. RECENT FINDINGS: Although involvement of the thoracic aorta and its branches was more common among females, males had a tendency toward limited involvement of the abdominal aorta and its branches...
September 29, 2016: Current Opinion in Rheumatology
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