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Asthma genetics

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https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#1
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28434117/associations-of-tim-1-genetic-polymorphisms-with-asthma-a-meta-analysis
#2
Xiaochuan Xie, Xiaohan Shi, Peng Chen, Li Rao
PURPOSE: Recently, the roles of TIM-1 genetic polymorphisms in asthma have been extensively studied, with conflicting results. Therefore, we performed the present meta-analysis to better assess potential associations of TIM-1 genetic polymorphisms with asthma. METHODS: Eligible articles were searched in PubMed, Medline, EMBASE, Google Scholar, and CNKI up to December 2016. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to detect any potential associations between TIM-1 genetic polymorphisms and asthma...
April 22, 2017: Lung
https://www.readbyqxmd.com/read/28429804/identifying-tagging-snps-for-african-specific-genetic-variation-from-the-african-diaspora-genome
#3
Henry Richard Johnston, Yi-Juan Hu, Jingjing Gao, Timothy D O'Connor, Gonçalo R Abecasis, Genevieve L Wojcik, Christopher R Gignoux, Pierre-Antoine Gourraud, Antoine Lizee, Mark Hansen, Rob Genuario, Dave Bullis, Cindy Lawley, Eimear E Kenny, Carlos Bustamante, Terri H Beaty, Rasika A Mathias, Kathleen C Barnes, Zhaohui S Qin
A primary goal of The Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) is to develop an 'African Diaspora Power Chip' (ADPC), a genotyping array consisting of tagging SNPs, useful in comprehensively identifying African specific genetic variation. This array is designed based on the novel variation identified in 642 CAAPA samples of African ancestry with high coverage whole genome sequence data (~30× depth). This novel variation extends the pattern of variation catalogued in the 1000 Genomes and Exome Sequencing Projects to a spectrum of populations representing the wide range of West African genomic diversity...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28428554/network-assisted-analysis-of-gwas-data-identifies-a-functionally-relevant-gene-module-for-childhood-onset-asthma
#4
Y Liu, M Brossard, C Sarnowski, A Vaysse, M Moffatt, P Margaritte-Jeannin, F Llinares-López, M H Dizier, M Lathrop, W Cookson, E Bouzigon, F Demenais
The number of genetic factors associated with asthma remains limited. To identify new genes with an undetected individual effect but collectively influencing asthma risk, we conducted a network-assisted analysis that integrates outcomes of genome-wide association studies (GWAS) and protein-protein interaction networks. We used two GWAS datasets, each consisting of the results of a meta-analysis of nine childhood-onset asthma GWASs (5,924 and 6,043 subjects, respectively). We developed a novel method to compute gene-level P-values (fastCGP), and proposed a parallel dense-module search and cross-selection strategy to identify an asthma-associated gene module...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28425252/allergic-and-autoimmune-disorders-in-families-with-selective-iga-deficiency
#5
Mustafa Erkoçoğlu, Ayşe Metin, Ayşenur Kaya, Celal Özcan, Ayşegül Akan, Ersoy Civelek, Murat Çapanoğlu, Tayfur Giniş, Can Naci Kocabaş
BACKGROUND/AIM: IgA deficiency is the most common human primary immunodeficiency. The prevalence of allergic disorders and autoimmunity is thought to be increased in selective IgA deficiency (sIgAD). However, it is currently unclear if these disorders coincide within these families. We aimed to evaluate the frequency of allergic and autoimmune disorders in children with sIgAD and their first-degree relatives (FDRs). MATERIALS AND METHODS: The study included 81 children diagnosed with sIgAD and 274 of their FDRs...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28424691/increased-autophagy-related-5-gene-expression-is-associated-with-collagen-expression-in-the-airways-of-refractory-asthmatics
#6
Audrey H Poon, David F Choy, Fazila Chouiali, Rakhee K Ramakrishnan, Bassam Mahboub, Severine Audusseau, Andrea Mogas, Jeffrey M Harris, Joseph R Arron, Catherine Laprise, Qutayba Hamid
BACKGROUND: Fibrosis, particularly excessive collagen deposition, presents a challenge for treating asthmatic individuals. At present, no drugs can remove or reduce excessive collagen in asthmatic airways. Hence, the identification of pathways involved in collagen deposition would help to generate therapeutic targets to interfere with the airway remodeling process. Autophagy, a cellular degradation process, has been shown to be dysregulated in various fibrotic diseases, and genetic association studies in independent human populations have identified autophagy-related 5 (ATG5) to be associated with asthma pathogenesis...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28422086/association-between-secretoglobin-family-3a-member-2-scgb3a2-gene-polymorphisms-and-asthma-in-a-korean-population
#7
Su Kang Kim, Hosik Seok, Hae Jeong Park, Kyuup Han, Sang Wook Kang, Ju Yeon Ban, Hee-Jae Jung, Kwan-Il Kim, Beom-Joon Lee, Jinju Kim, Joo-Ho Chung
BACKGROUND Secretoglobin family 3A member 2 (SCGB3A2) plays an important role in secreting lung surfactant protein, which is a downstream target of thyroid transcription factor. MATERIAL AND METHODS We investigated whether single-nucleotide polymorphisms (SNPs) of SCGB3A2 gene contribute to susceptibility to asthma. To explore this possible association, 2 promoter SNPs (rs6882292, 659 G/A and rs1368408, -112 G/A) and missense SNP (rs151333009, stop codon) were tested in SCGB3A2 gene in 101 asthma patients and 377 healthy control subjects...
April 19, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28420867/interaction-effects-of-polyfluoroalkyl-substances-and-sex-steroid-hormones-on-asthma-among-children
#8
Yang Zhou, Li-Wen Hu, Zhengmin Min Qian, Sarah Dee Geiger, Katelyn L Parrish, Shyamali C Dharmage, Brittany Campbell, Marjut Roponen, Pasi Jalava, Maija-Riitta Hirvonen, Joachim Heinrich, Xiao-Wen Zeng, Bo-Yi Yang, Xiao-Di Qin, Yungling Leo Lee, Guang-Hui Dong
To evaluate the interactions between polyfluoroalkyl substances (PFASs) and reproductive hormones and associated asthma, a total of 231 asthmatic and 225 non-asthmatic adolescents were selected from northern Taiwan in the Genetic and Biomarkers study for Childhood Asthma from 2009-2010. The interaction between PFASs and reproductive hormones on asthma was analyzed with a two-level binary logistic regression model. The results showed that, among asthmatics, PFASs were positively associated with estradiol levels and negatively associated with testosterone levels...
April 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28411833/atopic-dermatitis-and-comorbidities-added-value-of-comprehensive-dermatoepidemiology
#9
Tamar Nijsten
Atopic dermatitis is common and in its severe form is devastating. This chronic inflammatory dermatosis is part of the atopic syndrome, which includes asthma, food allergies, and hay fever and is known to be associated with mental health disorders. In line with psoriasis, several recent observational studies using national survey and linkage data have suggested a link between atopic dermatitis and cardiovascular disease. The atopic dermatitis field can benefit from the past experiences in psoriasis research and should not follow the same path, but, rather, aim for a more comprehensive approach from the beginning...
May 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28410872/prevalence-and-risk-factors-for-wheezing-and-allergic-diseases-in-preschool-children-a-perspective-from-the-mediterranean-coast-of-turkey
#10
E Bolat, T Arikoglu, M A Sungur, S B Batmaz, S Kuyucu
OBJECTIVES: The aim of the present study was to determine the prevalence and risk factors of allergic diseases in preschool children from one of the biggest cities in the Mediterranean Region of Turkey. METHODS: The study population included 396 preschool children attending to urban daycare centres in Mersin. In the first stage, a comprehensive standardised questionnaire modified from the International Study of Asthma and Allergies in Childhood (ISAAC) was employed...
April 11, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28400946/the-state-of-asthma-epidemiology-an-overview-of-systematic-reviews-and-their-quality
#11
Jon Genuneit, Annina M Seibold, Christian J Apfelbacher, George N Konstantinou, Jennifer J Koplin, Stefania La Grutta, Kirsty Logan, Carsten Flohr, Michael R Perkin
BACKGROUND: Recently, we have published an overview of systematic reviews in allergy epidemiology and identified asthma as the most commonly reviewed allergic disease. Building on this work, we aimed to investigate the quality of systematic reviews in asthma using the AMSTAR checklist and to provide a reference for future, more in-depth assessment of the extent of previous knowledge. METHODS: We included all 307 systematic reviews indexed with asthma, including occupational asthma, and/or wheeze from our previous search in PubMed and EMBASE up to December 2014 for systematic reviews on epidemiological research on allergic diseases...
2017: Clinical and Translational Allergy
https://www.readbyqxmd.com/read/28400178/polymorphisms-in-chronic-rhinosinusitis-with-nasal-polyps-a-systematic-review
#12
Vanessa Ramos Pires Dinarte, Anemari Ramos Dinarte Dos Santos, Luiza Ferreira de Araújo, Mariah Guieiro Alves Dos Reis, Edwin Tamashiro, Fabiana Cardoso Pereira Valera, Wilson Araújo da Silva Júnior, Wilma Terezinha Anselmo-Lima
INTRODUCTION: Chronic rhinosinusitis with nasal polyps is a multifactorial disease with a complex pathophysiology involving multiple genetic and environmental factors. OBJECTIVE: The purpose of this work review is to focus on the importance of genetic studies in chronic rhinosinusitis with nasal polyps besides the several barriers that exists for its understanding. METHODS: A systematic review on studies of association between single nucleotide polymorphisms and chronic rhinosinusitis with nasal polyps based on a PubMed/Medline and Periódicos CAPES search of all articles published between January 2005 and January 2015 was made...
March 23, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28399855/characterisation-of-a-murine-model-of-the-late-asthmatic-response
#13
Katie Baker, Kristof Raemdonck, Robert J Snelgrove, Maria G Belvisi, Mark A Birrell
BACKGROUND: The incidence of asthma is increasing at an alarming rate. While the current available therapies are effective, there are associated side effects and they fail to adequately control symptoms in all patient subsets. In the search to understand disease pathogenesis and find effective therapies hypotheses are often tested in animal models before progressing into clinical studies. However, current dogma is that animal model data is often not predictive of clinical outcome. One possible reason for this is the end points measured such as antigen-challenge induced late asthmatic response (LAR) is often used in early clinical development, but seldom in animal model systems...
April 11, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28383714/a-systems-approach-identifies-time-dependent-associations-of-multimorbidities-with-pancreatic-cancer-risk
#14
P Gomez-Rubio, V Rosato, M Marquez, C Bosetti, E Molina-Montes, M Rava, J Piñero, C W Michalski, A Farré, X Molero, M Löhr, L Ilzarbe, J Perea, W Greenhalf, M O'Rorke, A Tardón, T Gress, V M Barberà, T Crnogorac-Jurcevic, L Muñoz-Bellvís, E Domínguez-Muñoz, A Gutiérrez-Sacristán, J Balsells, E Costello, C Guillén-Ponce, J Huang, M Iglesias, J Kleeff, B Kong, J Mora, L Murray, D O'Driscoll, P Peláez, I Poves, R T Lawlor, A Carrato, M Hidalgo, A Scarpa, L Sharp, L I Furlong, F X Real, C La Vecchia, N Malats
Background: HASH(0x3f11638) Pancreatic ductal adenocarcinoma (PDAC) is usually diagnosed in late adulthood; therefore, many patients suffer or have suffered from other diseases. Identifying disease-patterns associated with PDAC risk may enable a better characterization of high-risk patients. Methods: HASH(0x3f21f38) Multimorbidity patterns (MPs) were assessed from 17 self-reported conditions using hierarchical clustering, principal component, and factor analyses in 1705 PDAC cases and 1084 controls from a European population...
April 5, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28382891/longitudinal-study-of-diet-quality-and-change-in-asthma-symptoms-in-adults-according-to-smoking-status
#15
Zhen Li, Emmanuelle Kesse-Guyot, Orianne Dumas, Judith Garcia-Aymerich, Bénédicte Leynaert, Christophe Pison, Nicole Le Moual, Isabelle Romieu, Valérie Siroux, Carlos A Camargo, Rachel Nadif, Raphaëlle Varraso
It has been hypothesised that increased asthma prevalence in westernised countries is associated with changes in lifestyle factors, including a poorer diet. However, little is known regarding the association between diet quality and asthma. In the diet-asthma association, the role of BMI as a potential mediator needs clarification; moreover, potential effect modification by non-diet sources of oxidants, such as smoking, merits investigation. We investigated the association between diet quality and change in asthma symptoms, as well as assessed effect modification by smoking, while accounting for BMI as a potential mediator...
February 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28382783/risk-of-allergic-conditions-in-children-born-to-women-with-systemic-lupus-erythematosus
#16
Julie Couture, Moshe Ben-Shoshan, Christian A Pineau, Susan Scott, Ann E Clarke, Sasha Bernatsky, Evelyne Vinet
OBJECTIVE: Limited evidence suggests a potentially increased risk of allergic conditions in offspring born to women with systemic lupus erythematosus (SLE). In a large population-based study, we aimed to determine if children born to SLE mothers have an increased risk of allergic conditions compared to children born to mothers without SLE. METHODS: Using the "Offspring of SLE mothers Registry (OSLER)", we identified children born live to SLE mothers and their matched controls, and ascertained allergic conditions (including asthma, allergic rhinitis, eczema, urticaria, angioedema, and anaphylaxis) based on ≥1 hospitalization or ≥1 or 2 physician(s) visit(s) with a relevant diagnostic code...
April 6, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28371335/genetic-susceptibility-to-severe-asthma-with-fungal-sensitization
#17
N L Overton, A Simpson, P Bowyer, D W Denning
Severe asthma is problematic and its pathogenesis poorly understood. Fungal sensitization is common, and many patients with severe asthma with fungal sensitization (SAFS), used to denote this subgroup of asthma, respond to antifungal therapy. We have investigated 325 haplotype-tagging SNPs in 22 candidate genes previously associated with aspergillosis in patients with SAFS, with comparisons in atopic asthmatics and healthy control patients, of whom 47 SAFS, 279 healthy and 152 atopic asthmatic subjects were genotyped successfully...
March 31, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28364410/association-analyses-identify-two-susceptibility-loci-5q31-and-5q22-1-for-atopic-dermatitis-in-chinese-han-population
#18
Xiao-Yun Jiang, Jin-Hua Zhao, Chong-Xian Yu, Ling Fang, Xiao-Dong Zheng, Xian-Yong Yin, Yan-Yan Wu, Xian-Fa Tang, Fu-Sheng Zhou, Xue-Jun Zhang, Feng-Li Xiao
BACKGROUND: Atopic dermatitis (AD) and other atopic diseases often share some common genetic and pathogenic bases. Recent genome-wide association studies (GWAS) have identified several loci associated with atopic diseases, allergic sensitization and asthma in different populations. The aim of this study was to investigate whether these susceptibility loci were related to AD in Chinese Han population. METHODS: Eight single nucleotide polymorphisms (SNPs) from recent atopic diseases and allergic sensitization GWAS were genotyped in 3,013 AD patients and 5,483 healthy controls in Chinese Han population using Sequenom MassArray system...
April 1, 2017: Asian Pacific Journal of Allergy and Immunology
https://www.readbyqxmd.com/read/28357706/the-burden-and-long-term-respiratory-morbidity-associated-with-respiratory-syncytial-virus-infection-in-early-childhood
#19
REVIEW
Brigitte Fauroux, Eric A F Simões, Paul A Checchia, Bosco Paes, Josep Figueras-Aloy, Paolo Manzoni, Louis Bont, Xavier Carbonell-Estrany
INTRODUCTION: The REGAL (RSV Evidence-a Geographical Archive of the Literature) series provide a comprehensive review of the published evidence in the field of respiratory syncytial virus (RSV) in Western countries over the last 20 years. The objective of this fifth publication was to determine the long-term respiratory morbidity associated with RSV lower respiratory tract infection (RSV LRTI) in early life. METHODS: A systematic review was undertaken for articles published between January 1, 1995 and December 31, 2015...
March 29, 2017: Infectious Diseases and Therapy
https://www.readbyqxmd.com/read/28356142/towards-evidence-based-vitamin-d-supplementation-in-infants-vitamin-d-intervention-in-infants-vidi-study-design-and-methods-of-a-randomised-controlled-double-blinded-intervention-study
#20
Otto Helve, Heli Viljakainen, Elisa Holmlund-Suila, Jenni Rosendahl, Helena Hauta-Alus, Maria Enlund-Cerullo, Saara Valkama, Kati Heinonen, Katri Räikkönen, Timo Hytinantti, Outi Mäkitie, Sture Andersson
BACKGROUND: Vitamin D is important for bone mass accrual during growth. Additionally, it is considered a requirement for a multitude of processes associated with, for example, the development of immunity. Many countries apply vitamin D supplementation strategies in infants, but the guidelines are not based on scientific evidence and aim at prevention of rickets. It remains unclear whether the recommended doses are sufficient for the wide array of other effects of vitamin D. The VIDI trial performed in Finland is the first large randomised controlled study for evaluation of the effects of different vitamin D supplemental doses in infancy on: 1...
March 29, 2017: BMC Pediatrics
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