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Asthma genetics

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https://www.readbyqxmd.com/read/29691411/analysis-of-predicted-loss-of-function-variants-in-uk-biobank-identifies-variants-protective-for-disease
#1
Connor A Emdin, Amit V Khera, Mark Chaffin, Derek Klarin, Pradeep Natarajan, Krishna Aragam, Mary Haas, Alexander Bick, Seyedeh M Zekavat, Akihiro Nomura, Diego Ardissino, James G Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J Bown, Nilesh J Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Daniel Chasman, Paul Ridker, Joshua Denny, Lisa Bastarache, Judith H Lichtman, Gail D'Onofrio, Jennifer Mattera, John A Spertus, Wayne H-H Sheu, Kent D Taylor, Bruce M Psaty, Stephen S Rich, Wendy Post, Jerome I Rotter, Yii-Der Ida Chen, Harlan Krumholz, Danish Saleheen, Stacey Gabriel, Sekar Kathiresan
Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted loss-of-function (pLOF) variants provide insight into effector transcript and direction of biological effect. In >400,000 UK Biobank participants, we conduct association analyses of 3759 pLOF variants with six metabolic traits, six cardiometabolic diseases, and twelve additional diseases...
April 24, 2018: Nature Communications
https://www.readbyqxmd.com/read/29679657/eleven-loci-with-new-reproducible-genetic-associations-with-allergic-disease-risk
#2
Manuel Ar Ferreira, Judith M Vonk, Hansjörg Baurecht, Ingo Marenholz, Chao Tian, Joshua D Hoffman, Quinta Helmer, Annika Tillander, Vilhelmina Ullemar, Yi Lu, Franz Rüschendorf, David A Hinds, Norbert Hübner, Stephan Weidinger, Patrik Ke Magnusson, Eric Jorgenson, Young-Ae Lee, Dorret I Boomsma, Robert Karlsson, Catarina Almqvist, Gerard H Koppelman, Lavinia Paternoster
BACKGROUND: A recent genome-wide association study (GWAS) identified 99 loci that contain genetic risk variants shared between asthma, hay fever and eczema. Many more risk loci shared between these common allergic diseases remain to be discovered, which could point to new therapeutic opportunities. OBJECTIVE: To identify novel risk loci shared between asthma, hay fever and eczema by applying a gene-based test of association to results from a published GWAS that included data from 360,838 individuals...
April 18, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29679366/blood-group-and-incidence-of-asthma-and-chronic-obstructive-pulmonary-disease
#3
Bożena Mroczek, Zygmunt Sitko, Agnieszka Sujewicz, Weronika Wolińska, Iwona Karpeta-Pawlak, Donata Kurpas
Chronic respiratory diseases are determined by genetic predisposition, and environmental and socioeconomic variables. One genetic factor underlying susceptibility to such diseases can be the ABO blood group system. The purpose of this study was to investigate the hypothesis that there would be a relationship between the blood group and risk of developing asthma and chronic obstructive pulmonary disease (COPD). We reviewed medical history files of patients with the diagnosis of COPD or asthma, including those suffering from a cancerous disease accompanied by asthma or COPD, hospitalized from January 2016 to July 2017...
April 21, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29678672/genetic-restriction-of-antigen-presentation-dictates-allergic-sensitization-and-disease-in-humanized-mice
#4
Alina Neunkirchner, Bernhard Kratzer, Cordula Köhler, Ursula Smole, Lukas F Mager, Klaus G Schmetterer, Doris Trapin, Victoria Leb-Reichl, Edward Rosloniec, Ronald Naumann, Lukas Kenner, Beatrice Jahn-Schmid, Barbara Bohle, Rudolf Valenta, Winfried F Pickl
BACKGROUND: Immunoglobulin(Ig)E-associated allergies result from misguided immune responses against innocuous antigens. CD4+ T lymphocytes are critical for initiating and perpetuating that process, yet the crucial factors determining whether an individual becomes sensitized towards a given allergen remain largely unknown. OBJECTIVE: To determine the key factors for sensitization and allergy towards a given allergen. METHODS: We here created a novel human T cell receptor(TCR) and human leucocyte antigen (HLA)-DR1 (TCR-DR1) transgenic mouse model of asthma, based on the human-relevant major mugwort (Artemisia vulgaris) pollen allergen Art v 1 to examine the critical factors for sensitization and allergy upon natural allergen exposure via the airways in the absence of systemic priming and adjuvants...
April 5, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29676646/ambient-air-pollution-and-clinical-implications-for-susceptible-populations
#5
Laura G Hooper, Joel D Kaufman
Air pollution is associated with a diversity of health effects, and evidence for a causal relationship with specific diseases exists. Exposure to air pollution is ubiquitous and typically beyond the control of the individual; the resulting health burden for the population can be high. Disproportionate effects are seen in individuals who have increased susceptibility to air pollution owing to individual- or community-level characteristics. As studies grow increasingly sophisticated, the understanding of who comprises the susceptible population continuously expands...
April 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29666136/systematic-review-and-meta-analysis-of-diabetes-mellitus-cardiovascular-and-respiratory-condition-epidemiology-in-sexual-minority-women
#6
Catherine Meads, Adam Martin, Jeffrey Grierson, Justin Varney
OBJECTIVE: Sexual minority women (SMW) experience higher chronic disease risk factors than heterosexual counterparts. However, it was unclear if these risks translate into higher physical condition rates. This systematic review evaluates cardiovascular disease (CVD), hypertension, respiratory disease and diabetes mellitus in SMW. METHODS: A protocol was registered with the Prospero database (CRD42016050299). Included were studies reporting mortality, incidence or prevalence of the above-listed conditions in SMW compared with heterosexual women...
April 17, 2018: BMJ Open
https://www.readbyqxmd.com/read/29664734/potential-causes-of-asthma-in-the-united-arab-emirates-drawing-insights-from-the-arabian-gulf
#7
REVIEW
Sarah Dalibalta, Fatin Samara, Haya Qadri, Hibatallah Adouchana
There is considerable concern on the rise in the incidence of asthma worldwide with statistics in the United Arab Emirates (UAE) indicating that at least 13% of schoolchildren, particularly of Emirati descent, suffer from asthma. With its high rates of hospital admissions, negative socioeconomic impact and significant morbidity, this is a disease that requires optimal guidelines for control and awareness. In this article, we review the current knowledge of asthma in the UAE and draw on studies, especially from the surrounding region, to identify its contributing factors within this population...
April 17, 2018: Reviews on Environmental Health
https://www.readbyqxmd.com/read/29642688/samter-s-triad-state-of-the-art
#8
Sung-Dong Kim, Kyu-Sup Cho
Samter's triad (ST) is a well-known disease characterized by the triad of bronchial asthma, nasal polyps, and aspirin intolerance. Over the past few years, a rapid development in the knowledge of the pathogenesis and clinical characteristics of ST has happened. The aim of this paper is to review the recent investigations on the pathophysiological mechanisms and genetic background, diagnosis, and different therapeutic options of ST to advance our understanding of the mechanism and the therapeutic control of ST...
April 13, 2018: Clinical and Experimental Otorhinolaryngology
https://www.readbyqxmd.com/read/29628377/lung-function-trajectories-from-pre-school-age-to-adulthood-and-their-associations-with-early-life-factors-a-retrospective-analysis-of-three-population-based-birth-cohort-studies
#9
Danielle C M Belgrave, Raquel Granell, Steve W Turner, John A Curtin, Iain E Buchan, Peter N Le Souëf, Angela Simpson, A John Henderson, Adnan Custovic
BACKGROUND: Maximal lung function in early adulthood is an important determinant of mortality and COPD. We investigated whether distinct trajectories of lung function are present during childhood and whether these extend to adulthood and infancy. METHODS: To ascertain trajectories of FEV1 , we studied two population-based birth cohorts (MAAS and ALSPAC) with repeat spirometry from childhood into early adulthood (1046 participants from 5-16 years and 1390 participants from 8-24 years)...
April 5, 2018: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/29627041/obesity-and-asthma
#10
REVIEW
Ubong Peters, Anne E Dixon, Erick Forno
Obesity is a vast public health problem and both a major risk factor and disease modifier for asthma in children and adults. Obese subjects have increased asthma risk, and obese asthmatic patients have more symptoms, more frequent and severe exacerbations, reduced response to several asthma medications, and decreased quality of life. Obese asthma is a complex syndrome, including different phenotypes of disease that are just beginning to be understood. We examine the epidemiology and characteristics of this syndrome in children and adults, as well as the changes in lung function seen in each age group...
April 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29618952/role-of-genetic-variations-of-chitinase-3-like-1-in-bronchial-asthmatic-patients
#11
Kazuyuki Abe, Yutaka Nakamura, Kohei Yamauchi, Makoto Maemondo
Background: Single nucleotide polymorphisms (SNPs) in chitinase 3 - like 1 ( CHI3L1 ) are associated with bronchial severity and pulmonary function. CHI3L1 proteins are involved in both innate and adaptive immune responses; however, to date, the correlation of these SNPs and their age of onset of bronchial asthma has not been demonstrated. Methods: To address the role of these genetic variations, 390 patients with well-controlled bronchial asthma and living in Japan were recruited, genotyped, and had a pulmonary function test performed on them in this study...
2018: Clinical and Molecular Allergy: CMA
https://www.readbyqxmd.com/read/29618600/outdoor-air-pollution-exhaled-8-isoprostane-and-current-asthma-in-adults-the-egea-study
#12
Anaïs Havet, Farid Zerimech, Margaux Sanchez, Valérie Siroux, Nicole Le Moual, Bert Brunekreef, Morgane Stempfelet, Nino Künzli, Bénédicte Jacquemin, Régis Matran, Rachel Nadif
Associations between outdoor air pollution and asthma in adults are still scarce, and the underlying biological mechanisms are poorly understood. Our aim was to study the associations between 1) long-term exposure to outdoor air pollution and current asthma, 2) exhaled 8-isoprostane (8-iso; a biomarker related to oxidative stress) and current asthma, and 3) outdoor air pollution and exhaled 8-iso.Cross-sectional analyses were conducted in 608 adults (39% with current asthma) from the first follow-up of the French case-control and family study on asthma (EGEA; the Epidemiological study of the Genetic and Environmental factors of Asthma)...
April 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29601613/an-acne-survey-from-the-world-s-largest-annual-gathering-of-twins
#13
Amanda Suggs, Mathew Loesch, Harib Ezaldein, Luisa Christensen, Danyelle Dawes, Elma Baron
IMPORTANCE: Surveying identical twins allows us to qualitatively separate genetic and environmental factors that may contribute to acne severity. OBJECTIVE: To study a cohort of identical and fraternal twins to identify environmental factors that may influence acne severity. DESIGN, SETTING, PARTICIPANTS: A survey was administered to 139 identical and fraternal twin multiples (279 subjects) at the Annual Twins Day Festival in Twinsburg, Ohio on August 6-7, 2016...
April 1, 2018: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29601094/il17a-gene-polymorphism-rs4711998-and-rs8193036-are-not-associated-with-post-bronchiolitis-asthma-in-finnish-children
#14
Kirsi Nuolivirta, Annukka Holster, Johanna Teräsjärvi, Eero Lauhkonen, Sari Törmänen, Merja Helminen, Petri Koponen, Matti Korppi, Qiushui He
Bronchiolitis is the most common cause of hospitalisation in infants with no severe underlying illness and bronchiolitis in infancy may lead to childhood asthma. There is not doubt that genetic susceptibility plays a role in this process. Allergic rhinitis is common in children with asthma and asthma and allergies may even share a common genetic basis. This article is protected by copyright. All rights reserved.
March 30, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29600050/-pten-gene-silencing-contributes-to-airway-remodeling-and-induces-airway-smooth-muscle-cell-proliferation-in-mice-with-allergic-asthma
#15
Xin Wen, Jing Yan, Xin-Rui Han, Gui-Hong Zheng, Ran Tang, Li-Fang Liu, Dong-Mei Wu, Jun Lu, Yuan-Lin Zheng
Background: Allergic asthma is a complex genetic disorder that involves interactions between genetic and environmental factors. Usage of PTEN may be a good therapeutic strategy for the management of allergic inflammation. Thus, the present study aims to explore the effects of phosphatase and tensin homolog ( PTEN ) gene silencing on airway remodeling and proliferation of airway smooth muscle cells (ASMCs) in a mouse model of allergic asthma. Methods: A total of 56 healthy female BABL/c mice (weighing between 16 to 22 grams) were selected and were assigned on random into ovalbumin (OVA; mice were stimulated with OVA to induce allergic asthma), OVA + si-PTEN, normal saline (NS; mice were treated with normal saline) and NS + si-PTEN groups...
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29588858/single-nucleotide-polymorphisms-in-asthma-candidate-genes-tbxa2r-adam33-fcer1b-and-ormdl3-in-pakistani-asthmatics-a-case-control-study
#16
Nusrat Saba, Osman Yusuf, Sadia Rehman, Saeeda Munir, Amna Noor, Muhammad Saqlain, Atika Mansoor, Ghazala Kaukab Raja
Background: Genetic variations in different loci and genes are important in asthma pathogenesis. There is much importance of various immunological pathways in the IgE secretion regulation. Alterations in any main part of these pathways can increase the risk of asthma development. Polymorphisms in these genetic markers can effect certain pathways which predict the asthma susceptibility. In the present study, SNPs directly or indirectly affecting the immunological process pathways are selected...
2018: Asthma Research and Practice
https://www.readbyqxmd.com/read/29577859/update-on-asthma-genetics-results-from-meta-analyses-of-candidate-gene-association-studies
#17
K Tizaoui, K Hamzaoui, A Hamzaoui
Several studies have investigated the risk factors associated with asthma. Both genetic and environmental factors are considered to contribute to asthma susceptibility. Individual genetic association studies usually suffer from small sample size leading to biased results. Meta-analysis is a powerful tool that has the potential to resolve this limitation by increasing the statistical power of analyses. The current review summarizes the recent knowledge concerning genetic factors involved in asthma predisposition based on meta-analyses...
March 22, 2018: Current Molecular Medicine
https://www.readbyqxmd.com/read/29560824/in-silico-drug-combination-discovery-for-personalized-cancer-therapy
#18
Minji Jeon, Sunkyu Kim, Sungjoon Park, Heewon Lee, Jaewoo Kang
BACKGROUND: Drug combination therapy, which is considered as an alternative to single drug therapy, can potentially reduce resistance and toxicity, and have synergistic efficacy. As drug combination therapies are widely used in the clinic for hypertension, asthma, and AIDS, they have also been proposed for the treatment of cancer. However, it is difficult to select and experimentally evaluate effective combinations because not only is the number of cancer drug combinations extremely large but also the effectiveness of drug combinations varies depending on the genetic variation of cancer patients...
March 19, 2018: BMC Systems Biology
https://www.readbyqxmd.com/read/29551627/susceptibility-to-corticosteroid-induced-adrenal-suppression-a-genome-wide-association-study
#19
Daniel B Hawcutt, Ben Francis, Daniel F Carr, Andrea L Jorgensen, Peng Yin, Naomi Wallin, Natalie O'Hara, Eunice J Zhang, Katarzyna M Bloch, Amitava Ganguli, Ben Thompson, Laurence McEvoy, Matthew Peak, Andrew A Crawford, Brian R Walker, Joanne C Blair, Jonathan Couriel, Rosalind L Smyth, Munir Pirmohamed
BACKGROUND: A serious adverse effect of corticosteroid therapy is adrenal suppression. Our aim was to identify genetic variants affecting susceptibility to corticosteroid-induced adrenal suppression. METHODS: We enrolled children with asthma who used inhaled corticosteroids as part of their treatment from 25 sites across the UK (discovery cohort), as part of the Pharmacogenetics of Adrenal Suppression with Inhaled Steroids (PASS) study. We included two validation cohorts, one comprising children with asthma (PASS study) and the other consisting of adults with chronic obstructive pulmonary disorder (COPD) who were recruited from two UK centres for the Pharmacogenomics of Adrenal Suppression in COPD (PASIC) study...
March 15, 2018: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/29550775/nineteen-and-up-study-19up-understanding-pathways-to-mental-health-disorders-in-young-australian-twins
#20
Baptiste Couvy-Duchesne, Victoria O'Callaghan, Richard Parker, Natalie Mills, Katherine M Kirk, Jan Scott, Anna Vinkhuyzen, Daniel F Hermens, Penelope A Lind, Tracey A Davenport, Jane M Burns, Melissa Connell, Brendan P Zietsch, James Scott, Margaret J Wright, Sarah E Medland, John McGrath, Nicholas G Martin, Ian B Hickie, Nathan A Gillespie
PURPOSE: The Nineteen and Up study (19Up) assessed a range of mental health and behavioural problems and associated risk factors in a genetically informative Australian cohort of young adult twins and their non-twin siblings. As such, 19Up enables detailed investigation of genetic and environmental pathways to mental illness and substance misuse within the Brisbane Longitudinal Twin Sample (BLTS). PARTICIPANTS: Twins and their non-twin siblings from Queensland, Australia; mostly from European ancestry...
March 17, 2018: BMJ Open
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