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Inflammatory disease genetics

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https://www.readbyqxmd.com/read/28726756/functional-implications-of-micrornas-in-crohn-s-disease-revealed-by-integrating-microrna-and-messenger-rna-expression-profiling
#1
Orazio Palmieri, Teresa Maria Creanza, Fabrizio Bossa, Tiziana Latiano, Giuseppe Corritore, Orazio Palumbo, Giuseppina Martino, Giuseppe Biscaglia, Daniela Scimeca, Massimo Carella, Nicola Ancona, Angelo Andriulli, Anna Latiano
Crohn's disease (CD) is a debilitating inflammatory bowel disease (IBD) that emerges due to the influence of genetic and environmental factors. microRNAs (miRNAs) have been identified in the tissue and sera of IBD patients and may play an important role in the induction of IBD. Our study aimed to identify differentially expressed miRNAs and miRNAs with the ability to alter transcriptome activity by comparing inflamed tissue samples with their non-inflamed counterparts. We studied changes in miRNA-mRNA interactions associated with CD by examining their differential co-expression relative to normal mucosa from the same patients...
July 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28726033/recommendations-for-the-inclusion-of-fabry-disease-as-a-rare-febrile-condition-in-existing-algorithms-for-fever-of-unknown-origin
#2
Raffaele Manna, Roberto Cauda, Sandro Feriozzi, Giovanni Gambaro, Antonio Gasbarrini, Didier Lacombe, Avi Livneh, Alberto Martini, Huri Ozdogan, Antonio Pisani, Eleonora Riccio, Elena Verrecchia, Lorenzo Dagna
Fever of unknown origin (FUO) is a rather rare clinical syndrome representing a major diagnostic challenge. The occurrence of more than three febrile attacks with fever-free intervals of variable duration during 6 months of observation has recently been proposed as a subcategory of FUO, Recurrent FUO (RFUO). A substantial number of patients with RFUO have auto-inflammatory genetic fevers, but many patients remain undiagnosed. We hypothesize that this undiagnosed subgroup may be comprised of, at least in part, a number of rare genetic febrile diseases such as Fabry disease...
July 19, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28724798/hepatic-jak2-protects-against-atherosclerosis-through-circulating-igf-1
#3
Tharini Sivasubramaniyam, Stephanie A Schroer, Angela Li, Cynthia T Luk, Sally Yu Shi, Rickvinder Besla, David W Dodington, Adam H Metherel, Alex P Kitson, Jara J Brunt, Joshua Lopes, Kay-Uwe Wagner, Richard P Bazinet, Michelle P Bendeck, Clinton S Robbins, Minna Woo
Atherosclerosis is considered both a metabolic and inflammatory disease; however, the specific tissue and signaling molecules that instigate and propagate this disease remain unclear. The liver is a central site of inflammation and lipid metabolism that is critical for atherosclerosis, and JAK2 is a key mediator of inflammation and, more recently, of hepatic lipid metabolism. However, precise effects of hepatic Jak2 on atherosclerosis remain unknown. We show here that hepatic Jak2 deficiency in atherosclerosis-prone mouse models exhibited accelerated atherosclerosis with increased plaque macrophages and decreased plaque smooth muscle cell content...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28724744/ten-years-transmission-of-the-new-variant-of-chlamydia-trachomatis-in-sweden-prevalence-of-infections-and-associated-complications
#4
Jenny Dahlberg, Ronza Hadad, Karin Elfving, Inger Larsson, Jenny Isaksson, Anders Magnuson, Hans Fredlund, Magnus Unemo, Bjőrn Herrmann
OBJECTIVES: In 2006, a new variant of Chlamydia trachomatis (nvCT) was discovered in Sweden. It has a deletion in the plasmid resulting in failed detection by the single target systems from Abbott and Roche used at that time, whereas the third system used, from Becton Dickinson (BD), detects nvCT. The proportion of nvCT was initially up to 65% in counties using Abbott/Roche systems. This study analysed the proportion of nvCT from 2007 to 2015 in four selected counties and its impact on chlamydia-associated complications...
July 19, 2017: Sexually Transmitted Infections
https://www.readbyqxmd.com/read/28723948/integrative-functional-analyses-using-rainbow-trout-selected-for-tolerance-to-plant-diets-reveal-nutrigenomic-signatures-for-soy-utilization-without-the-concurrence-of-enteritis
#5
Jason Abernathy, Andreas Brezas, Kevin R Snekvik, Ronald W Hardy, Ken Overturf
Finding suitable alternative protein sources for diets of carnivorous fish species remains a major concern for sustainable aquaculture. Through genetic selection, we created a strain of rainbow trout that outperforms parental lines in utilizing an all-plant protein diet and does not develop enteritis in the distal intestine, as is typical with salmonids on long-term plant protein-based feeds. By incorporating this strain into functional analyses, we set out to determine which genes are critical to plant protein utilization in the absence of gut inflammation...
2017: PloS One
https://www.readbyqxmd.com/read/28721832/biomarkers-associated-with-bleeding-risk-in-the-setting-of-atrial-fibrillation
#6
Skevos Sideris, Stefanos Archontakis, George Latsios, George Lazaros, Konstantinos Toutouzas, Eleftherios Tsiamis, Manolis Vavuranakis, Charalampos Vlachopoulos, Konstantinos Gatzoulis, Konstantinos Tsioufis, Dimitris Tousoulis
Background Prevention of thromboembolic disease, mainly stroke, with oral anticoagulants remains a major therapeutic goal in patients with atrial fibrillation. Unfortunately, despite the high efficacy, anticoagulant therapy is associated with a significant risk of, frequently catastrophic, hemorrhagic complications. Among different clinical and laboratory parameters related to an increased risk of bleeding, several biological markers have been recognized and various risk scores for bleeding have been developed...
July 18, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28721208/new-perspectives-on-the-regulation-of-type-ii-inflammation-in-asthma
#7
REVIEW
Mireya Becerra-Díaz, Marsha Wills-Karp, Nicola M Heller
Asthma is a chronic inflammatory disease of the lungs which has been thought to arise as a result of inappropriately directed T helper type-2 (Th2) immune responses of the lungs to otherwise innocuous inhaled antigens. Current asthma therapeutics are directed towards the amelioration of downstream consequences of type-2 immune responses (i.e. β-agonists) or broad-spectrum immunosuppression (i.e. corticosteroids). However, few approaches to date have been focused on the primary prevention of immune deviation...
2017: F1000Research
https://www.readbyqxmd.com/read/28718215/usp18-protects-against-hepatic-steatosis-and-insulin-resistance-via-its-dub-activity
#8
Shimin An, Ling-Ping Zhao, Li-Jun Shen, Siyuan Wang, Kuo Zhang, Yu Qi, Jilin Zheng, Xiao-Jing Zhang, Xue-Yong Zhu, Rong Bao, Ling Yang, Yue-Xin Lu, Zhi-Gang She, Yi-Da Tang
Non-alcoholic fatty liver disease (NAFLD) is characterized by hepatic steatosis, impaired insulin sensitivity and chronic low-grade inflammation. However, the pathogenic mechanism of NAFLD is poorly understood, which hinders the exploration of possible treatments. Here, we first report that ubiquitin-specific protease 18 (USP18), a member of the deubiquitinating (DUB) enzyme family, plays regulatory roles in NAFLD progression. The expression of USP18 was down-regulated in the livers of non-alcoholic steatohepatitis (NASH) patients and high-fat diet (HFD) induced or genetically obese mice...
July 17, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28717845/proteomics-in-inflammatory-bowel-disease-approach-using-animal-models
#9
REVIEW
Fadi H Mourad, Yunki Yau, Valerie C Wasinger, Rupert W Leong
Recently, proteomics studies have provided important information on the role of proteins in health and disease. In the domain of inflammatory bowel disease, proteomics has shed important light on the pathogenesis and pathophysiology of inflammation and has contributed to the discovery of some putative clinical biomarkers of disease activity. By being able to obtain a large number of specimens from multiple sites and control for confounding environmental, genetic, and metabolic factors, proteomics studies using animal models of colitis offered an alternative approach to human studies...
July 17, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28716248/interleukin-6-il-6-rs1800796-and-cyclin-dependent-kinase-inhibitor-cdkn2a-cdkn2b-rs2383207-are-associated-with-ischemic-stroke-in-indigenous-west-african-men
#10
Rufus Akinyemi, Donna K Arnett, Hemant K Tiwari, Bruce Ovbiagele, Fred Sarfo, Vinodh Srinivasasainagendra, Marguerite Ryan Irvin, Abiodun Adeoye, Rodney T Perry, Albert Akpalu, Carolyn Jenkins, Lukman Owolabi, Reginald Obiako, Kolawole Wahab, Emmanuel Sanya, Morenikeji Komolafe, Michael Fawale, Philip Adebayo, Godwin Osaigbovo, Taofiki Sunmonu, Paul Olowoyo, Innocent Chukwuonye, Yahaya Obiabo, Onoja Akpa, Sylvia Melikam, Raelle Saulson, Raj Kalaria, Adesola Ogunniyi, Mayowa Owolabi
BACKGROUND: Inherited genetic variations offer a possible explanation for the observed peculiarities of stroke in sub - Saharan African populations. Interleukin-6 polymorphisms have been previously associated with ischemic stroke in some non-African populations. AIM: Herein we investigated, for the first time, the association of genetic polymorphisms of IL-6, CDKN2A- CDKN2B and other genes with ischemic stroke among indigenous West African participants in the Stroke Investigative Research and Education Network (SIREN) Study...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28716229/association-between-interleukin-32-polymorphism-and-multiple-sclerosis
#11
Zaher Morsaljahan, Alireza Rafiei, Reza Valadan, Mahmoud Abedini, Masoumeh Pakseresht, Rezvan Khajavi
BACKGROUND AND AIM: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS). Environmental and genetic factors play a key role in the development of the disease. Interleukin-32 (IL-32) is a cytokine inducing crucial inflammatory cytokines such as TNF-α, IL-6, IL-1β, and MIP-2. The present study was an attempt to reveal any association between IL-32 levels and C/T promoter SNP with susceptibility to MS. METHODS: This case control study recruited a total of 304 subjects including 132 MS patients and 172 sex- and age-matched healthy controls...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28714965/a-wellness-study-of-108-individuals-using-personal-dense-dynamic-data-clouds
#12
Nathan D Price, Andrew T Magis, John C Earls, Gustavo Glusman, Roie Levy, Christopher Lausted, Daniel T McDonald, Ulrike Kusebauch, Christopher L Moss, Yong Zhou, Shizhen Qin, Robert L Moritz, Kristin Brogaard, Gilbert S Omenn, Jennifer C Lovejoy, Leroy Hood
Personal data for 108 individuals were collected during a 9-month period, including whole genome sequences; clinical tests, metabolomes, proteomes, and microbiomes at three time points; and daily activity tracking. Using all of these data, we generated a correlation network that revealed communities of related analytes associated with physiology and disease. Connectivity within analyte communities enabled the identification of known and candidate biomarkers (e.g., gamma-glutamyltyrosine was densely interconnected with clinical analytes for cardiometabolic disease)...
July 17, 2017: Nature Biotechnology
https://www.readbyqxmd.com/read/28713926/association-between-tnfsf4-and-blk-gene-polymorphisms-and-susceptibility-to-allergic-rhinitis
#13
Yang Shen, Yun Liu, Xiao-Qiang Wang, Xia Ke, Hou-Yong Kang, Su-Ling Hong
Allergic rhinitis (AR) is a common inflammatory disease of the upper airway. Recent evidence suggests that gene‑gene interactions between tumor necrosis factor receptor superfamily 4 (TNFSF4) and B cell lymphocyte kinase (BLK) may have a synergistic effect on T and B cells in determining immunologic aberration, via the nuclear factor‑κB pathway. The present study was performed to evaluate the potential association between specific single nucleotide polymorphisms (SNPs) in the TNFSF4 and BKL genes with susceptibility to AR in Chinese subjects...
July 12, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28713086/intensifying-approach-to-the-therapy-of-patients-with-constellation-of-the-diseases-chronic-obstructive-pulmonary-disease-and-osteoarthritis
#14
Vyacheslav N Zhdan, Maksim М Potyazhenko, Galina S Khaymenova, Nadezhda N Lyulka, Tatyana V Dubrovinskaya, Igor V Ivanitsky
INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is one of 21st century. About 210 million people all over the world are suffering with COPD, and annually 3 million people die of it. Under the influence of different factors, such as smoking, air prolusion, evaporation of chemicals, poisoning effect of chemical firings, inflammation processes take place in lungs, and if it is prolonged and take place simultaneously with morphological changes in the lungs, it it provide the de4velopment of the systemic inflammation process...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28712039/cutaneous-manifestations-of-scleroderma-and-scleroderma-like-disorders-a-comprehensive-review
#15
REVIEW
Caterina Ferreli, Giulia Gasparini, Aurora Parodi, Emanuele Cozzani, Franco Rongioletti, Laura Atzori
Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations...
July 16, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28711143/genomics-of-systemic-lupus-erythematosus-insights-gained-by-studying-monogenic-young-onset-systemic-lupus-erythematosus
#16
REVIEW
Linda T Hiraki, Earl D Silverman
Systemic lupus erythematosus (SLE) is a systemic, autoimmune, multisystem disease with a heterogeneous clinical phenotype. Genome-wide association studies have identified multiple susceptibility loci, but these explain a fraction of the estimated heritability. This is partly because within the broad spectrum of SLE are monogenic diseases that tend to cluster in patients with young age of onset, and in families. This article highlights insights into the pathogenesis of SLE provided by these monogenic diseases...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711142/genetics-and-the-causes-of-ankylosing-spondylitis
#17
REVIEW
Aimee Hanson, Matthew A Brown
Ankylosing spondylitis (AS) is a common inflammatory arthritis in which genetic factors are the primary determinants of disease risk and severity. Substantial progress has been made in identifying genetic pathways involved in the disease, and in translating those discoveries to drug discovery programs. Recently discovered novel disease pathways include those involved in control of DNA methylation, bacterial sensing, and mucosal immunity. Additional pathways are likely to be identified as a higher proportion of the genetic risk of AS is determined...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711137/genomics-biology-and%C3%A2-human-illness-advances-in-the-monogenic-autoinflammatory-diseases
#18
REVIEW
Hirotsugu Oda, Daniel L Kastner
The monogenic autoinflammatory diseases are a group of illnesses with prominent rheumatic manifestations that are characterized by genetically determined recurrent sterile inflammation and are thus inborn errors of innate immunity. Molecular targeted therapies against inflammatory cytokines, such as interleukin 1 and tumor necrosis factor, and intracellular cytokine signaling pathways have proved effective in many cases. Emerging next-generation sequencing technologies have accelerated the identification of previously unreported genes causing autoinflammatory diseases...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28711136/population-genetics-and-natural-selection-in-rheumatic-disease
#19
REVIEW
Paula S Ramos
Human genetic diversity is the result of population genetic forces. This genetic variation influences disease risk and contributes to health disparities. Natural selection is an important influence on human genetic variation. Because immune and inflammatory function genes are enriched for signals of positive selection, the prevalence of rheumatic disease-risk alleles seen in different populations is partially the result of differing selective pressures (eg, due to pathogens). This review summarizes the genetic regions associated with susceptibility to different rheumatic diseases and concomitant evidence for natural selection, including known agents of selection exerting selective pressure in these regions...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28710114/circadian-rhythm-disruption-impairs-tissue-homeostasis-and-exacerbates-chronic-inflammation-in-the-intestine
#20
René Pagel, Florian Bär, Torsten Schröder, Annika Sünderhauf, Axel Künstner, Saleh M Ibrahim, Stella E Autenrieth, Kathrin Kalies, Peter König, Anthony H Tsang, Dominik Bettenworth, Senad Divanovic, Hendrik Lehnert, Klaus Fellermann, Henrik Oster, Stefanie Derer, Christian Sina
Endogenous circadian clocks regulate 24 h rhythms of physiology and behavior. Circadian rhythm disruption (CRD) is suggested as a risk factor for inflammatory bowel disease. However, the underlying molecular mechanisms remain unknown. Intestinal biopsies from Per1/2 mutant and wild-type (WT) mice were investigated by electron microscopy, immunohistochemistry, and bromodeoxyuridine pulse-chase experiments. TNF-α was injected intraperitoneally, with or without necrostatin-1, into Per1/2 mice or rhythmic and externally desynchronized WT mice to study intestinal epithelial cell death...
July 14, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
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