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Asthma genetics

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https://www.readbyqxmd.com/read/28993876/il-8-gene-variants-and-expression-in-childhood-asthma
#1
Rihab Charrad, Wajih Kaabachi, Ahlem Rafrafi, Anissa Berraies, Kamel Hamzaoui, Agnes Hamzaoui
PURPOSE: To examine the IL-8 expression levels and association of genetic variants with the risk of childhood persistent asthma prognosis. METHODS: Overall, 170 asthmatic children and 170 healthy controls were included in this case-control study. The human IL-8 serum levels were measured using ELISA. The IL-8 mRNA expression levels were assessed by a real-time quantitative reverse transcription-polymerase chain reaction (qRT-PCR). The genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods...
October 9, 2017: Lung
https://www.readbyqxmd.com/read/28992739/pharmacogenetic-and-pharmacogenomic-considerations-of-asthma-treatment
#2
Maria Gabriella Matera, Barbara Rinaldi, Luigino Calzetta, Mario Cazzola
Pharmacogenetic and pharmacogenomic approaches are already utilized in some areas, such as oncology and cardiovascular disease, for selecting appropriate patients and/or establishing treatment and dosing guidelines. This is not true in asthma although many patients have different responses to drug treatment due to genetic factors. Areas covered: Several genetic factors that affect the pharmacotherapeutic responses to asthma medications, such as β2-AR agonists, corticosteroids, and leukotriene modifiers and could contribute to significant between-person variability in response are described...
October 10, 2017: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/28987219/role-of-viral-infections-in-the-development-and-exacerbation-of-asthma-in-children
#3
REVIEW
Tuomas Jartti, James E Gern
Viral infections are closely linked to wheezing illnesses in children of all ages. Respiratory syncytial virus (RSV) is the main causative agent of bronchiolitis, whereas rhinovirus (RV) is most commonly detected in wheezing children thereafter. Severe respiratory illness induced by either of these viruses is associated with subsequent development of asthma, and the risk is greatest for young children who wheeze with RV infections. Whether viral illnesses actually cause asthma is the subject of intense debate...
October 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28978210/clinical-updates-on-the-management-of-asthma
#4
Suzanne Bollmeier
Asthma is a complex airway disorder that involves multiple inflammatory cells and cellular elements. Genetic and environmental factors result in recurrent episodes of the symptoms of asthma: coughing, wheezing, breathlessness, and chest tightness. Left untreated, these initial symptoms can transform into exacerbations ranging from spontaneous reversible airflow obstruction and airway remodeling to death. As a result, the need for novel therapeutic options for the treatment and long-term management of asthma has become increasingly vital...
February 2017: American Journal of Managed Care
https://www.readbyqxmd.com/read/28976216/how-should-treatment-approaches-differ-depending-on-the-severity-of-asthma
#5
Maciej Kupczyk, Piotr Kuna
Asthma is nowadays regarded as a syndrome of various overlapping phenotypes with defined clinical characteristics, different underlying inflammatory mechanisms, identifiable genetic background, environmental risk factors and possible biomarkers. There are no doubts that due to the diversity of asthma, a "one size fits all" management of the disease is no longer valid. Areas covered: Nowadays asthma management is based on the control of the disease, and the goals of asthma treatment are defined as good symptom control, decreased future risk of exacerbations, fixed airflow limitation, and side-effects of treatment...
October 4, 2017: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/28975873/associations-between-asthma-and-sensitization-to-pet-or-pollen-allergens-in-young-swedish-twins-the-stoppa-study
#6
Cecilia Lindemalm, Björn Nordlund, Anne K Örtqvist, Cecilia Lundholm, Marianne van Hage, Tong Gong, Catarina Almqvist
BACKGROUND: An association between childhood asthma and IgE sensitization has been established, but our understanding of the genetic and environmental contribution to it is incomplete. Our aim was to estimate the associations and dose-response relationship between asthma and sensitization to airborne allergens in Swedish 9- to 14-year-old twins. Additionally, we aimed to explore the importance of familial confounding from shared genes and environment using co-twin controls. METHODS: In the STOPPA cohort, 752 same-sex twin children were screened with Phadiatop® (Thermo Fisher Scientific; Pharmacia, Uppsala, Sweden); if positive further analysis of IgE antibodies to airborne allergens of pets (cat, horse, dog), pollens (birch, timothy, mugwort), mites, and mold were performed...
October 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28964857/polymorphisms-in-siglec1-contribute-to-susceptibility-to-pulmonary-active-tuberculosis-possibly-through-the-modulation-of-il-1%C3%A3
#7
Dhemerson Souza de Lima, Vinicius C L Nunes, Mauricio M Ogusku, Aya Sadahiro, Alessandra Pontillo, Bruna de Cunha Alencar
Siglec-1/CD169 is a sialoadhesin expressed by macrophages thought to function in cell-to-cell interactions. In the lung, the expression of Siglec-1 is specific for alveolar macrophages and single nucleotide polymorphisms (SNPs) in SIGLEC1 have been recently associated with asthma severity. Taking in account the role of alveolar macrophages in the control of M. tuberculosis and the poor literature about the contribution of SIGLEC1 genetics in M. tuberculosis susceptibility and development of pulmonary active TB, selected SNPs in SIGLEC1 were analysed in a case/control cohort from a TB endemic area of Brazil Amazon...
September 28, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28964817/adrb2-gene-polymorphism-and-emphysema-heterogeneity-can-modulate-bronchodilator-response-in-patients-with-emphysema
#8
Masafumi Nojiri, Shiro Mizuno, Kazuaki Nishiki, Ryo Kato, Ken Nakagawa, Taku Oikawa, Masaharu Iguchi, Kazuhiro Osanai, Takeshi Ishizaki, Hirohisa Toga
BACKGROUND: Genetic variation in the β2-adrenergic receptor (ADRB2) gene has been thought to have an important role in the differential response to β2-agonist therapy for asthma. However, previous studies have shown little evidence for an association between these ADRB2 variants and the bronchial dilator response (BDR) in chronic obstructive pulmonary disease (COPD) patients. This discrepancy could be explained by differences in the distribution and heterogeneity of pulmonary emphysema in COPD patients, since emphysema distribution and heterogeneity are thought to have a role in pulmonary function in COPD patients...
September 27, 2017: Pulmonary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28960651/surfactant-protein-d-multimerization-and-gene-polymorphism-in-copd-and-asthma
#9
Dalia Fakih, Zeina Akiki, Kirsten Junker, Myrna Medlej-Hashim, Mirna Waked, Pascale Salameh, Uffe Holmskov, Hasnaa Bouharoun-Tayoun, Soulaima Chamat, Grith L Sorensen, Rania Jounblat
BACKGROUND AND OBJECTIVE: A structural single nucleotide polymorphism rs721917 in the surfactant protein D (SP-D) gene, known as Met11Thr, was reported to influence the circulating levels and degree of multimerization of SP-D and was associated with both COPD and atopy in asthma. Moreover, disease-related processes are known to degrade multimerized SP-D, however, the degree of the protein degradation in these diseases is not clarified. We aimed to determine the distribution of multimerized (high molecular weight (HMW)) and non-multimerized (low molecular weight (LMW)) species of serum SP-D and their correlation with genetic polymorphisms and presence of disease in Lebanese COPD and asthmatic patients...
September 28, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28957509/archaic-hominin-introgression-in-africa-contributes-to-functional-salivary-muc7-genetic-variation
#10
Duo Xu, Pavlos Pavlidis, Recep Ozgur Taskent, Nikolaos Alachiotis, Colin Flanagan, Michael DeGiorgio, Ran Blekhman, Stefan Ruhl, Omer Gokcumen
One of the most abundant proteins in human saliva, mucin-7, is encoded by the MUC7 gene, which harbors copy number variable subexonic repeats (PTS-repeats) that affect the size and glycosylation potential of this protein. We recently documented the adaptive evolution of MUC7 subexonic copy number variation among primates. Yet, the evolution of MUC7 genetic variation in humans remained unexplored. Here, we found that PTS-repeat copy number variation has evolved recurrently in the human lineage, thereby generating multiple haplotypic backgrounds carrying five or six PTS-repeat copy number alleles...
October 1, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28955434/the-epidemiology-of-noncommunicable-respiratory-disease-in-sub-saharan-africa-the-middle-east-and-north-africa
#11
REVIEW
Rana Ahmed, Ryan Robinson, Kevin Mortimer
Noncommunicable diseases (NCDs) are a major and increasing global health issue. The World Health Organization (WHO) estimates that NCDs represent 63% of all global deaths of which 3.9 million are due to chronic respiratory diseases (CRDs) and Chronic Obstructive Pulmonary Disease (COPD) in particular. COPD is now the third most common cause of death globally; 90% of these deaths occur in Low and Middle Income Countries (LMICs). COPD affects 329 million people, almost 5% of the world's population. In addition, asthma affects 334 million people, again representing almost 5% of the world's population...
June 2017: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/28950434/the-il-4-rs2070874-polymorphism-may-be-associated-with-the-severity-of-recurrent-viral-induced-wheeze
#12
Flore Amat, Malek Louha, Marta Benet, Tamazoust Guiddir, Mélisande Bourgoin-Heck, Philippe Saint-Pierre, Colombe Paluel-Marmont, Cécile Fontaine, Nathalie Lambert, Rémy Couderc, Juan-Ramon Gonzalez, Jocelyne Just
BACKGROUND: Childhood recurrent wheezing and consequently asthma corresponds to various phenotypes. Our aim was to link genetic variants of asthma candidate genes to the phenotypes of early onset wheezing. STUDY DESIGN: We included very young consecutive children presenting with recurrent wheezing who had been evaluated for the severity of wheezing, associated atopic comorbidities, and tested for biomarkers of atopy and inflammation. All were genotyped for 16 single nucleotide polymorphisms (SNPs) linked with asthma or atopy...
September 26, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28947017/identification-of-a-new-defective-serpina1-allele-pi-zla-palma-encoding-an-alpha-1-antitrypsin-with-altered-glycosylation-pattern
#13
José M Hernández-Pérez, Ruth Ramos-Díaz, José A Pérez
BACKGROUND: Alpha-1-antitrypsin (AAT) deficiency is a genetic condition that arises from mutations in the SERPINA1 gene and predisposes to develop pulmonary emphysema and, less frequently, liver disease. Occasionally, new defective SERPINA1 alleles are detected as an outcome of targeted-screening programs or case-findings. METHODS: This study began with a female patient showing bronchial hyperreactivity. Serum level and phenotype for AAT was analysed by immunonephelometry and isoelectric focusing electrophoresis...
October 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28943468/gene-environment-interaction-between-an-il4r-variant-and-school-endotoxin-exposure-contributes-to-asthma-symptoms-in-inner-city-children
#14
Peggy S Lai, Amir H Massoud, Mingcan Xia, Carter R Petty, Amparito Cunningham, Talal A Chatila, Wanda Phipatanakul
An interleukin 4 receptor genetic variant (IL4Rα-Q576R) is common in children of African ancestry. There is a gene-environment interaction between this variant, school endotoxin exposure, and asthma symptoms.
September 21, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28941186/three-novel-mutations-in-cyba-among-22-iranians-with-chronic-granulomatous-disease
#15
M Badalzadeh, S Tajik, M R Fazlollahi, M Houshmand, F Fattahi, Z Alizadeh, M Movahedi, Z Adab, G T Khotaei, A A Hamidieh, H Heidarnazhad, Z Pourpak
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme. The enzyme is at least composed of membrane-bound subunits gp91-phox and p22-phox (also named cytochrome b558 ), and cytosolic ones p40-phox, p47-phox and p67-phox. A defect in the enzyme activity leads to impaired intracellular killing of phagocytic cells. The CYBA gene encoding p22-phox is located on chromosome 16q24. In this study, new genetic changes of CYBA gene in 22 Iranian patients with autosomal recessive-CGD (AR-CGD) were identified...
September 20, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28932614/acute-low-dose-hydralazine-induced-lupus-pneumonitis
#16
Sarah K Holman, Donique Parris, Sarah Meyers, Jason Ramirez
A 35-year-old female was started on hydralazine 10 mg orally three times a day for treatment of postpartum hypertension. Three months later, after multiple unsuccessful courses of prednisone and antibiotics for presumed pneumonia and asthma exacerbations, her respiratory symptoms progressed in severity and she developed resting hypoxia. Previous diagnostic work-up included spirometry with a restrictive pattern, chest CT showing bilateral basilar consolidation, negative BAL, and nonspecific findings on lung biopsy of mild inflammatory cells...
2017: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/28927820/a-novel-role-for-cilia-function-in-atopy-adgrv1-and-dnah5-interactions
#17
Pierre-Emmanuel Sugier, Myriam Brossard, Chloé Sarnowski, Amaury Vaysse, Andréanne Morin, Lucile Pain, Patricia Margaritte-Jeannin, Marie-Hélène Dizier, William O C M Cookson, Mark Lathrop, Miriam F Moffatt, Catherine Laprise, Florence Demenais, Emmanuelle Bouzigon
BACKGROUND: Atopy, an endotype underlying allergic diseases, has a substantial genetic component. OBJECTIVE: Our goal was to identify novel genes associated with atopy in asthma-ascertained families. METHODS: We implemented a three-step analysis strategy in three datasets: The Epidemiological study on the Genetics and Environment of Asthma (EGEA) dataset: 1,660 subjects; The Saguenay-Lac-Saint-Jean (SLSJ) dataset: 1,138 subjects; and The Medical Research Council (MRC) dataset: 446 subjects)...
September 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28924281/molecular-basi-of-superoxide-dismutase-alterations-in-spirometry-proven-bronchial-asthma
#18
Syed Hafeezul Hassan, Rubina Ghani, Muhammad Sarwar
OBJECTIVE: To study alterations in superoxide dismutase at molecular level in spirometry-proven bronchial asthma. METHODS: This pilot study was conducted at Baqai Medical University Hospital, Karachi, from June to December 2013, and comprised spirometry-proven asthmatics. The allele frequencies of missense polymorphisms of the exon-intron of a superoxide dismutase, copper-zinc superoxide dismutase were included in the analysis and compared with their age- and gender-matched healthy controls...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28921663/insect-bite-hypersensitivity-in-horses-is-associated-with-airway-hyperreactivity
#19
S Lanz, A Brunner, C Graubner, E Marti, V Gerber
BACKGROUND: Genetic and epidemiologic evidence suggests that in horses, as in other species, different manifestations of hypersensitivity may occur together. HYPOTHESIS: Horses affected with insect bite hypersensitivity (IBH) show airway hyperreactivity (AH) to inhaled histamine, even in the absence of overt clinical signs of equine asthma (EA). ANIMALS: Twenty-two healthy controls (group C), 24 horses suffering from IBH alone (group IBH), and 23 horses suffering from IBH and EA (group IBH/EA)...
September 18, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28890845/comorbidities-of-atopic-dermatitis-beyond-rhinitis-and-asthma
#20
REVIEW
Yuki M F Andersen, Alexander Egeberg, Lone Skov, Jacob P Thyssen
PURPOSE OF REVIEW: In this review article, we summarize the current evidence about atopic dermatitis (AD)-associated comorbidities, beyond the traditional atopic and allergic conditions. RECENT FINDINGS: Patients with AD may have an increased risk of cardiovascular diseases, certain malignancies, autoimmune diseases, and neuropsychiatric diseases. The causes of these associations are likely multifactorial and may include genetic predispositions, systemic low-grade inflammation, environmental exposures, medication, and lifestyle and behavioral risk factors...
2017: Current Dermatology Reports
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