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Inflammatory disease genetics

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https://www.readbyqxmd.com/read/28806779/a-mutation-in-nischarin-causes-otitis-media-via-limk1-and-nf-%C3%AE%C2%BAb-pathways
#1
Michael Crompton, Tom Purnell, Hayley E Tyrer, Andrew Parker, Greg Ball, Rachel E Hardisty-Hughes, Richard Gale, Debbie Williams, Charlotte H Dean, Michelle M Simon, Ann-Marie Mallon, Sara Wells, Mahmood F Bhutta, Martin J Burton, Hilda Tateossian, Steve D M Brown
Otitis media (OM), inflammation of the middle ear (ME), is a common cause of conductive hearing impairment. Despite the importance of the disease, the aetiology of chronic and recurrent forms of middle ear inflammatory disease remains poorly understood. Studies of the human population suggest that there is a significant genetic component predisposing to the development of chronic OM, although the underlying genes are largely unknown. Using N-ethyl-N-nitrosourea mutagenesis we identified a recessive mouse mutant, edison, that spontaneously develops a conductive hearing loss due to chronic OM...
August 14, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28806188/tubulointerstitial-nephritis-and-uveitis
#2
Kaivon Pakzad-Vaezi, Kathryn L Pepple
PURPOSE OF REVIEW: Tubulointerstitial nephritis and uveitis (TINU) is an important yet underrecognized ocular inflammatory syndrome. This review summarizes key historical publications that identified and defined the syndrome, and more recent literature that reveal the importance of urinary β2-microglobulin testing and kidney biopsy in the diagnostic evaluation of patients with TINU. Additionally, research studies providing new insights into disease pathogenesis are highlighted. RECENT FINDINGS: In contrast with initial reports of TINU manifesting exclusively as an anterior uveitis in pediatric patients, more recent reports have identified TINU in patients of all ages with a wide range of ocular manifestations...
August 12, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28805827/transcriptional-risk-scores-link-gwas-to-eqtls-and-predict-complications-in-crohn-s-disease
#3
Urko M Marigorta, Lee A Denson, Jeffrey S Hyams, Kajari Mondal, Jarod Prince, Thomas D Walters, Anne Griffiths, Joshua D Noe, Wallace V Crandall, Joel R Rosh, David R Mack, Richard Kellermayer, Melvin B Heyman, Susan S Baker, Michael C Stephens, Robert N Baldassano, James F Markowitz, Mi-Ok Kim, Marla C Dubinsky, Judy Cho, Bruce J Aronow, Subra Kugathasan, Greg Gibson
Gene expression profiling can be used to uncover the mechanisms by which loci identified through genome-wide association studies (GWAS) contribute to pathology. Given that most GWAS hits are in putative regulatory regions and transcript abundance is physiologically closer to the phenotype of interest, we hypothesized that summation of risk-allele-associated gene expression, namely a transcriptional risk score (TRS), should provide accurate estimates of disease risk. We integrate summary-level GWAS and expression quantitative trait locus (eQTL) data with RNA-seq data from the RISK study, an inception cohort of pediatric Crohn's disease...
August 14, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28805207/periodontal-diseases
#4
REVIEW
Denis F Kinane, Panagiota G Stathopoulou, Panos N Papapanou
Periodontal diseases comprise a wide range of inflammatory conditions that affect the supporting structures of the teeth (the gingiva, bone and periodontal ligament), which could lead to tooth loss and contribute to systemic inflammation. Chronic periodontitis predominantly affects adults, but aggressive periodontitis may occasionally occur in children. Periodontal disease initiation and propagation is through a dysbiosis of the commensal oral microbiota (dental plaque), which then interacts with the immune defences of the host, leading to inflammation and disease...
June 22, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28804483/the-impact-of-western-diet-and-nutrients-on-the-microbiota-and-immune-response-at-mucosal-interfaces
#5
REVIEW
Donjete Statovci, Mònica Aguilera, John MacSharry, Silvia Melgar
Recent findings point toward diet having a major impact on human health. Diets can either affect the gut microbiota resulting in alterations in the host's physiological responses or by directly targeting the host response. The microbial community in the mammalian gut is a complex and dynamic system crucial for the development and maturation of both systemic and mucosal immune responses. Therefore, the complex interaction between available nutrients, the microbiota, and the immune system are central regulators in maintaining homeostasis and fighting against invading pathogens at mucosal sites...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28801578/basophils-contribute-to-pristane-induced-lupus-like-nephritis-model
#6
Barbara Dema, Yasmine Lamri, Christophe Pellefigues, Emeline Pacreau, Fanny Saidoune, Caroline Bidault, Hajime Karasuyama, Karim Sacré, Eric Daugas, Nicolas Charles
Lupus nephritis (LN), one of the most severe outcomes of systemic lupus erythematosus (SLE), is initiated by glomerular deposition of immune-complexes leading to an inflammatory response and kidney failure. Autoantibodies to nuclear antigens and autoreactive B and T cells are central in SLE pathogenesis. Immune mechanisms amplifying this autoantibody production drive flares of the disease. We previously showed that basophils were contributing to LN development in a spontaneous lupus-like mouse model (constitutive Lyn (-/-) mice) and in SLE subjects through their activation and migration to secondary lymphoid organs (SLOs) where they amplify autoantibody production...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28799803/nutrition-inflammation-and-liver-spleen-axis
#7
Luigi Barrea, Carolina Di Somma, Giovanna Muscogiuri, Giovanni Tarantino, Gian Carlo Tenore, Francesco Orio, Annamaria Colao, Silvia Savastano
Chronic low-grade systemic inflammation represents a mechanism common to many diseases linked to atherosclerosis-related pathways. There is a growing body of evidence indicating that the combination of food quantity and quality along with genetic susceptibility are able to induce the aberrant activation of innate immune signalling, which initially contributes to chronic low-grade inflammation. Liver represents the central player to inflammatory response. Dietary/metabolic factors contribute to the pathogenesis of Non-alcoholic Fatty Liver Disease (NAFLD), the main causes of liver disease in the Western world...
August 11, 2017: Critical Reviews in Food Science and Nutrition
https://www.readbyqxmd.com/read/28798540/growth-differentiation-factor-15-may-predict-mortality-of-peripheral-and-coronary-artery-diseases-and-correlate-with-their-risk-factors
#8
Lung-An Hsu, Semon Wu, Jyh-Ming Jimmy Juang, Fu-Tien Chiang, Ming-Sheng Teng, Jeng-Feng Lin, Hsuan-Li Huang, Yu-Lin Ko
Plasma GDF15 concentrations were measured in 612 Taiwanese individuals without overt systemic disease. Clinical parameters, GDF15 genetic variants, and 22 biomarker levels were analyzed. We further enrolled 86 patients with PAD and 481 patients with CAD, who received endovascular intervention and coronary angiography, respectively, to examine the role of GDF15 level in predicting all-cause mortality. Significant associations were found between GDF15 genotypes/haplotypes and GDF15 levels. The circulating GDF15 level was positively associated with age, smoking, hypertension, and diabetes mellitus as well as circulating levels of lipocalin 2 and various biomarkers of inflammation and oxidative stress...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28795970/machine-learning-based-gene-prioritization-identifies-novel-candidate-risk-genes-for-inflammatory-bowel-disease
#9
Ofer Isakov, Iris Dotan, Shay Ben-Shachar
BACKGROUND: The inflammatory bowel diseases (IBDs) are chronic inflammatory disorders, associated with genetic, immunologic, and environmental factors. Although hundreds of genes are implicated in IBD etiology, it is likely that additional genes play a role in the disease process. We developed a machine learning-based gene prioritization method to identify novel IBD-risk genes. METHODS: Known IBD genes were collected from genome-wide association studies and annotated with expression and pathway information...
August 8, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28795307/sex-symptom-severity-and-quality-of-life-in-rheumatology
#10
REVIEW
Marco Krasselt, Christoph Baerwald
Inflammatory rheumatic diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) show a striking female predominance ranging from 3:1 in RA up to 9:1 in SLE. The background for those gender bias is not fully understood yet, but seems to be the result of a complex interaction between sex hormones, (epi-)genetics, and possibly even the composition of gut microbiota. Moreover, time of disease onset, the clinical phenotype including co-morbidities as well as the course of the diseases during life differ between genders...
August 9, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28794879/human-papillomavirus-driven-immune-deviation-challenge-and-novel-opportunity-for-immunotherapy
#11
REVIEW
Sigrun Smola, Connie Trimble, Peter L Stern
It is now recognized that the immune system can be a key component of restraint and control during the neoplastic process. Human papillomavirus (HPV)-associated cancers of the anogenital tract and oropharynx represent a significant clinical problem but there is a clear opportunity for immune targeting of the viral oncogene expression that drives cancer development. However, high-risk HPV infection of the target epithelium and the expression of the E6/E7 oncogenes can lead to early compromise of the innate immune system (loss of antigen-presenting cells) facilitating viral persistence and increased risk of cancer...
June 2017: Therapeutic Advances in Vaccines
https://www.readbyqxmd.com/read/28794437/genetic-variation-at-the-cd28-locus-and-its-impact-on-expansion-of-pro-inflammatory-cd28-negative-t-cells-in-healthy-individuals
#12
Evaggelia Liaskou, Louisa Jeffery, Dimitrios Chanouzas, Blagoje Soskic, Michael F Seldin, Lorraine Harper, David Sansom, Gideon M Hirschfield
The CD28 locus is associated with susceptibility to a variety of autoimmune and immune-mediated inflammatory diseases including primary sclerosing cholangitis (PSC). Previously, we linked the CD28 pathway in PSC disease pathology and found that vitamin D could maintain CD28 expression. Here, we assessed whether the PSC-associated CD28 risk variant A (rs7426056) affects CD28 expression and T cell function in healthy individuals (n = 14 AA, n = 14 AG, n = 14 GG). Homozygotes for the PSC disease risk allele (AA) showed significantly lower CD28 mRNA expression ex-vivo than either GG or AG (p < 0...
August 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28791692/skin-diseases-in-indigenous-population-retrospective-epidemiological-study-at-xingu-indigenous-park-xip-and-review-of-the-literature
#13
Jenifer S A Wu, Marcos C Florian, Douglas A Rodrigues, Jane Tomimori
BACKGROUND: Skin diseases among indigenous populations have been poorly described in the literature. Risk factors linked to habits, cultural practices, genetics, and environmental characteristics can influence the frequency and clinical presentation of these diseases. METHODS: This was a cross-sectional study conducted through a review of dermatological medical records. Data were obtained over three visits to Xingu Indigenous Park (XIP). Main dermatoses were compared by gender, age, ethnicity, and village...
August 9, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28791291/atopic-dermatitis-studies-through-in-vitro-models
#14
REVIEW
Evelyne De Vuyst, Michel Salmon, Céline Evrard, Catherine Lambert de Rouvroit, Yves Poumay
Atopic dermatitis (AD) is a complex inflammatory skin condition that is not fully understood. Epidermal barrier defects and Th2 immune response dysregulations are thought to play crucial roles in the pathogenesis of the disease. A vicious circle takes place between these alterations, and it can further be complicated by additional genetic and environmental factors. Studies investigating in more depth the etiology of the disease are thus needed in order to develop functional treatments. In recent years, there have been significant advances regarding in vitro models reproducing important features of AD...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28791280/oxidative-stress-and-bronchial-asthma-in-children-causes-or-consequences
#15
REVIEW
Milos Jesenak, Maria Zelieskova, Eva Babusikova
Bronchial asthma is one of the most common chronic inflammatory diseases of the airways. In the pathogenesis of this disease, the interplay among the genes, intrinsic, and extrinsic factors are crucial. Various combinations of the involved factors determine and modify the final clinical phenotype/endotype of asthma. Oxidative stress results from an imbalance between the production of reactive oxygen species and reactive nitrogen species and the capacity of antioxidant defense mechanisms. It was shown that oxidative damage of biomolecules is strongly involved in the asthmatic inflammation...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28791018/genetic-and-functional-associations-with-decreased-anti-inflammatory-tumor-necrosis-factor-alpha-induced-protein-3-in-macrophages-from-subjects-with-axial-spondyloarthritis
#16
Yiping Liu, Zhan Ye, Xiang Li, Jennifer L Anderson, Mike Khan, Douglas DaSilva, Marissa Baron, Deborah Wilson, Vera Bocoun, Lynn C Ivacic, Steven J Schrodi, Judith A Smith
OBJECTIVE: Tumor necrosis factor alpha-induced protein 3 (TNFAIP3) is an anti-inflammatory protein implicated in multiple autoimmune and rheumatologic conditions. We hypothesized that lower levels of TNFAIP3 contributes to excessive cytokine production in response to inflammatory stimuli in axial spondyloarthritis (AxSpA). A further aim was to determine the immune signaling and genetic variation regulating TNFAIP3 expression in individual subjects. METHODS: Blood-derived macrophages from 50 AxSpA subjects and 30 healthy controls were assessed for TNFAIP3 expression...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28783162/classification-of-common-human-diseases-derived-from-shared-genetic-and-environmental-determinants
#17
Kanix Wang, Hallie Gaitsch, Hoifung Poon, Nancy J Cox, Andrey Rzhetsky
In this study, we used insurance claims for over one-third of the entire US population to create a subset of 128,989 families (481,657 unique individuals). We then used these data to (i) estimate the heritability and familial environmental patterns of 149 diseases and (ii) infer the genetic and environmental correlations for disease pairs from a set of 29 complex diseases. The majority (52 of 65) of our study's heritability estimates matched earlier reports, and 84 of our estimates appear to have been obtained for the first time...
August 7, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28782470/novel-insights-into-the-pathogenesis-of-osteoarthritis
#18
Matthias Geyer, C Schönfeld
Osteoarthritis represents the most frequently diagnosed condition of the musculoskeletal system and accounts for a high amount of direct and indirect socioeconomic costs worldwide. While for rheumatoid arthritis much progress has been made in the past decades both in understanding its pathogenesis and in creating novel therapies, the pathophysiology of osteoarthritis still holds several secrets to be unraveled in the near future in order to also allow for the development of effective novel pharmacotherapeutical options...
August 7, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28777173/restless-legs-syndrome-and-sleep-related-movement-disorders
#19
Lynn Marie Trotti
PURPOSE OF REVIEW: This article provides an update on six sleep-related movement disorders: restless legs syndrome (RLS), periodic limb movement disorder, sleep-related leg cramps, bruxism, rhythmic movement disorder, and propriospinal myoclonus, with an emphasis on RLS. RECENT FINDINGS: RLS is a common sensorimotor disorder that impairs quality of life. RLS is frequently comorbid to neurologic, psychiatric, vascular, and inflammatory diseases. Accumulating evidence implicates the pathophysiology of RLS as a state of dopamine dysfunction and iron deficiency that occurs on a background of genetic susceptibility conferred by 6 gene polymorphisms...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28777108/genetics-in-inclusion-body-myositis
#20
Simon Rothwell, James B Lilleker, Janine A Lamb
PURPOSE OF REVIEW: To review the advances in our understanding of the genetics of inclusion body myositis (IBM) in the past year. RECENT FINDINGS: One large genetic association study focusing on immune-related genes in IBM has refined the association within the human leukocyte antigen (HLA) region to HLA-DRB1 alleles, and identified certain amino acid positions in HLA-DRB1 that may explain this risk. A suggestive association with CCR5 may indicate genetic overlap with other autoimmune diseases...
August 1, 2017: Current Opinion in Rheumatology
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