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Asthma genetics

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https://www.readbyqxmd.com/read/28533558/investigating-the-causal-effect-of-smoking-on-hay-fever-and-asthma-a-mendelian-randomization-meta-analysis-in-the-carta-consortium
#1
Tea Skaaby, Amy E Taylor, Rikke K Jacobsen, Lavinia Paternoster, Betina H Thuesen, Tarunveer S Ahluwalia, Sofus C Larsen, Ang Zhou, Andrew Wong, Maiken E Gabrielsen, Johan H Bjørngaard, Claudia Flexeder, Satu Männistö, Rebecca Hardy, Diana Kuh, Sarah J Barry, Line Tang Møllehave, Charlotte Cerqueira, Nele Friedrich, Tobias N Bonten, Raymond Noordam, Dennis O Mook-Kanamori, Christian Taube, Leon E Jessen, Alex McConnachie, Naveed Sattar, Mark N Upton, Charles McSharry, Klaus Bønnelykke, Hans Bisgaard, Holger Schulz, Konstantin Strauch, Thomas Meitinger, Annette Peters, Harald Grallert, Ellen A Nohr, Mika Kivimaki, Meena Kumari, Uwe Völker, Matthias Nauck, Henry Völzke, Chris Power, Elina Hyppönen, Torben Hansen, Torben Jørgensen, Oluf Pedersen, Veikko Salomaa, Niels Grarup, Arnulf Langhammer, Pål R Romundstad, Frank Skorpen, Jaakko Kaprio, Marcus R Munafò, Allan Linneberg
Observational studies on smoking and risk of hay fever and asthma have shown inconsistent results. However, observational studies may be biased by confounding and reverse causation. Mendelian randomization uses genetic variants as markers of exposures to examine causal effects. We examined the causal effect of smoking on hay fever and asthma by using the smoking-associated single nucleotide polymorphism (SNP) rs16969968/rs1051730. We included 231,020 participants from 22 population-based studies. Observational analyses showed that current vs never smokers had lower risk of hay fever (odds ratio (OR) = 0·68, 95% confidence interval (CI): 0·61, 0·76; P < 0·001) and allergic sensitization (OR = 0·74, 95% CI: 0·64, 0·86; P < 0·001), but similar asthma risk (OR = 1·00, 95% CI: 0·91, 1·09; P = 0·967)...
May 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28533007/free-25-oh-d-concentrations-are-associated-with-atopy-and-lung-function-in-children-with-asthma
#2
Suzanne L Pollard, John J Lima, Edward Mougey, Karina Romero, Carla Tarazona-Meza, Katherine Tomaino, Gary Malpartida Guzmán, Nadia N Hansel, William Checkley
BACKGROUND: Evidence suggests free mono-hydroxyvitamin D (25[OH]D) concentrations are more strongly linked to certain outcomes than total concentrations; however, no studies have examined the relation between free 25(OH)D and respiratory or allergic disease. OBJECTIVE: To examine associations between total and free 25(OH)D concentrations and asthma outcomes. METHODS: We quantified total and free 25(OH)D concentrations in 137 Peruvian children with asthma and 152 children without asthma and examined associations with asthma outcomes...
May 19, 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28527151/association-of-the-mir-196a2-mir-146a-and-mir-499-polymorphisms-with-asthma-phenotypes-in-a-korean-population
#3
Hoang Kim Tu Trinh, Duy Le Pham, Su-Chin Kim, Ri-Yeon Kim, Hae-Sim Park, Seung-Hyun Kim
BACKGROUND: MicroRNAs (miRNAs) modulate expressions of inflammatory genes, thereby regulating inflammatory responses. Single nucleotide polymorphisms (SNPs) in miRNAs could affect their efficiency in binding to messenger RNAs (mRNAs). OBJECTIVE: We investigated the associations of miRNA SNPs with asthma phenotypes. miR-196a2 (rs11614913 T>C), miR-146a (rs2910164 C>G), and miR-499 (rs3746444 A>G) were genotyped in 347 asthma patients and 172 normal healthy controls (NCs)...
May 19, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28516352/air-pollution-and-respiratory-health-among-diabetic-and-non-diabetic-subjects-in-pune-india-results-from-the-wellcome-trust-genetic-study
#4
Morteza Abdullatif Khafaie, Sundeep Santosh Salvi, Chittaranjan Sakerlal Yajnik, Ajay Ojha, Behzad Khafaie, Sharad Damodar Gore
Diabetics may be more vulnerable to the harmful effects of ambient air pollutants than healthy individuals. But, the risk factors that lead to susceptibility to air pollution in diabetics have not yet been identified. We examined the effect of exposure to ambient PM10 on chronic symptoms and the pulmonary function tests (PFT) in diabetic and non-diabetic subjects. Also, to investigate possible determinants of susceptibility, we recruited 400 type 2 diabetic and 465 healthy subjects who were investigated for chronic respiratory symptoms (CRSs) and then underwent measurement of forced vital capacity (FVC) and forced expiratory volume 1 (FEV1) according to standard protocol...
May 17, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28514297/association-of-single-nucleotide-polymorphisms-in-toll-like-receptor-2-gene-with-asthma-susceptibility-a-meta-analysis
#5
Yifeng Gao, Hanyan Xiao, Yongbo Wang, Feng Xu
BACKGROUND: An increasing number of studies have been carried out on the relationship between polymorphisms in toll-like receptor 2 (TLR2) gene and asthma risk. However, the results were controversial. With the purpose of yielding a more reliable estimation of the association, we conducted the present meta-analysis. METHODS: Multiple electronic databases up to August 22, 2016 were searched for literature retrieval. The association between the asthma susceptibility and the rs5743708 polymorphism, rs3804099 polymorphism, rs3804100 polymorphism, and rs4696480 polymorphism in TLR2 gene was appraised...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28499209/precursors-in-adolescence-of-adult-onset-bipolar-disorder
#6
Ayako Hiyoshi, Julia A Sabet, Hugo Sjöqvist, Carren Melinder, Robert J Brummer, Scott Montgomery
BACKGROUND: Although the estimated contribution of genetic factors is high in bipolar disorder, environmental factors may also play a role. This Swedish register-based cohort study of men examined if physical and psychological characteristics in late adolescence, including factors previously linked with bipolar disorder (body mass index, asthma and allergy), are associated with subsequent bipolar disorder in adulthood. Unipolar depression and anxiety are analysed as additional outcomes to identify bipolar disorder-specific associations...
April 29, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28488322/impact-of-the-genetic-variants-of-glcci1-on-clinical-features-of-asthmatic-patients
#7
Shinji Chiba, Yutaka Nakamura, Tomoki Mizuno, Kazuyuki Abe, Yosuke Horii, Hiromi Nagashima, Nobuhito Sasaki, Hiroyuki Kanno, Tatsuo Tanita, Kohei Yamauchi
Background Several gene variants are associated with a response to an inhaled corticosteroids (ICSs) treatment in patients with bronchial asthma. A variant of the glucocorticoid-induced transcript 1 (GLCCI1) genes has previously been associated with decreased lung function improvement upon treatment with inhaled corticosteroids in patients with bronchial asthma. Another report has also demonstrated that this genetic biomarker did not influence the change in flow volume in one second. However, no studies have considered the treatment content and the GLCCI1 variants...
May 9, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28486474/vitamin-d-levels-and-susceptibility-to-asthma-elevated-immunoglobulin-e-levels-and-atopic-dermatitis-a-mendelian-randomization-study
#8
Despoina Manousaki, Lavinia Paternoster, Marie Standl, Miriam F Moffatt, Martin Farrall, Emmanuelle Bouzigon, David P Strachan, Florence Demenais, Mark Lathrop, William O C M Cookson, J Brent Richards
BACKGROUND: Low circulating vitamin D levels have been associated with risk of asthma, atopic dermatitis, and elevated total immunoglobulin E (IgE). These epidemiological associations, if true, would have public health importance, since vitamin D insufficiency is common and correctable. METHODS AND FINDINGS: We aimed to test whether genetically lowered vitamin D levels were associated with risk of asthma, atopic dermatitis, or elevated serum IgE levels, using Mendelian randomization (MR) methodology to control bias owing to confounding and reverse causation...
May 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28481622/cardiomyocytes-of-the-heart-and-pulmonary-veins-novel-contributors-to-asthma
#9
Stephen Sai Folmsbee, Cara J Gottardi
Recent genome-wide association studies have implicated both cardiac and pulmonary vein-related genes in the pathogenesis of asthma. Since cardiac cells are not present in lung airways or viewed to affect the immune system, interpretation of these findings in the context of more well-established contributors to asthma has remained challenging. However, cardiomyocytes are present in the lung, specifically along pulmonary veins, and recent murine models suggest that cardiac cells lining pulmonary veins may contribute to allergic airway disease...
May 8, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28479600/a-crucial-role-of-the-pd-1h-coinhibitory-receptor-in-suppressing-experimental-asthma
#10
Huafeng Liu, Xin Li, Li Hu, Min Zhu, Bailin He, Liqun Luo, Lieping Chen
Programmed death one homolog (PD-1H) is a cell surface molecule of the B7/CD28 immune modulatory gene family. Although PD-1H has been shown to function as a coinhibitory receptor on T cells to limit naive T-cell activation and proliferation, its role in the regulation of the T-cell response to allergens is unknown. We report here that genetic ablation or blockade of PD-1H drastically promotes pulmonary inflammation with massive accumulation of eosinophils in a mouse model of experimental asthma, indicating a suppressive function of PD-1H in allergic inflammation...
May 8, 2017: Cellular & Molecular Immunology
https://www.readbyqxmd.com/read/28470927/systematic-assessment-of-environmental-risk-factors-for-bipolar-disorder-an-umbrella-review-of-systematic-reviews-and-meta-analyses
#11
REVIEW
Beatrice Bortolato, Cristiano A Köhler, Evangelos Evangelou, Jordi León-Caballero, Marco Solmi, Brendon Stubbs, Lazaros Belbasis, Isabella Pacchiarotti, Lars V Kessing, Michael Berk, Eduard Vieta, André F Carvalho
OBJECTIVES: The pathophysiology of bipolar disorder is likely to involve both genetic and environmental risk factors. In our study, we aimed to perform a systematic search of environmental risk factors for BD. In addition, we assessed possible hints of bias in this literature, and identified risk factors supported by high epidemiological credibility. METHODS: We searched the Pubmed/MEDLINE, EMBASE and PsycInfo databases up to 7 October 2016 to identify systematic reviews and meta-analyses of observational studies that assessed associations between putative environmental risk factors and BD...
May 3, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28463995/neuropeptide-s-nps-variants-modify-the-signaling-and-risk-effects-of-nps-receptor-1-npsr1-variants-in-asthma
#12
Nathalie Acevedo, Sini Ezer, Simon Kebede Merid, Vincent D Gaertner, Cilla Söderhäll, Mauro D'Amato, Michael Kabesch, Erik Melén, Juha Kere, Ville Pulkkinen
Single nucleotide polymorphisms (SNPs) close to the gain-of-function substitution, Asn(107)Ile (rs324981, A>T), in Neuropeptide S Receptor 1 (NPSR1) have been associated with asthma. Furthermore, a functional SNP (rs4751440, G>C) in Neuropeptide S (NPS) encodes a Val(6)Leu substitution on the mature peptide that results in reduced bioactivity. We sought to examine the effects of different combinations of these NPS and NPSR1 variants on downstream signaling and genetic risk of asthma. In transfected cells, the magnitude of NPSR1-induced activation of cAMP/PKA signal transduction pathways and downstream gene expression was dependent on the combination of the NPS and NPSR1 variants with NPS-Val(6)/NPSR1-Ile(107) resulting in strongest and NPS-Leu(6)/NPSR1-Asn(107) in weakest effects, respectively...
2017: PloS One
https://www.readbyqxmd.com/read/28461304/making-progress-toward-understanding-the-genetic-architecture-of-asthma-in-the-most-affected-us-ethnic-group
#13
EDITORIAL
Blanca E Himes, Victor E Ortega
No abstract text is available yet for this article.
May 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28461288/a-meta-analysis-of-genome-wide-association-studies-of-asthma-in-puerto%C3%A2-ricans
#14
Qi Yan, John Brehm, Maria Pino-Yanes, Erick Forno, Jerome Lin, Sam S Oh, Edna Acosta-Perez, Cathy C Laurie, Michelle M Cloutier, Benjamin A Raby, Adrienne M Stilp, Tamar Sofer, Donglei Hu, Scott Huntsman, Celeste S Eng, Matthew P Conomos, Deepa Rastogi, Kenneth Rice, Glorisa Canino, Wei Chen, R Graham Barr, Esteban G Burchard, Juan C Celedón
Puerto Ricans are disproportionately affected with asthma in the USA. In this study, we aim to identify genetic variants that confer susceptibility to asthma in Puerto Ricans.We conducted a meta-analysis of genome-wide association studies (GWAS) of asthma in Puerto Ricans, including participants from: the Genetics of Asthma in Latino Americans (GALA) I-II, the Hartford-Puerto Rico Study and the Hispanic Community Health Study. Moreover, we examined whether susceptibility loci identified in previous meta-analyses of GWAS are associated with asthma in Puerto Ricans...
May 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28451394/adam33-gene-polymorphisms-identified-to-be-associated-with-asthma-in-a-chinese-li-population
#15
Bo Shen, Rong Lin, Cai-Chun Wang, Jing Rei, Yan Sun, Yong-Le Yang, Ying-Ying Lin
A disintegrin and metalloprotease 33 (ADAM33) is an asthma susceptibility gene that has been proven to be present in certain human populations. The Li population is a minority ethnic group, most of whom maintain a distinctive lifestyle on Hainan Island in southern China. To the best of our knowledge, no previous study has established whether ADAM33 polymorphisms are associated with asthma in the Li population. Therefore, the ADAM33 polymorphisms in a Li population were investigated in the present study. A total of 150 asthma patients and 100 healthy subjects were enrolled in the present study, and their DNA samples were evaluated to analyze eight single-nucleotide polymorphisms (SNPs) on the ADAM33 gene...
March 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28451053/international-consensus-icon-on-clinical-consequences-of-mite-hypersensitivity-a-global-problem
#16
Mario Sánchez-Borges, Enrique Fernandez-Caldas, Wayne R Thomas, Martin D Chapman, Bee Wah Lee, Luis Caraballo, Nathalie Acevedo, Fook Tim Chew, Ignacio J Ansotegui, Leili Behrooz, Wanda Phipatanakul, Roy Gerth van Wijk, Demoly Pascal, Nelson Rosario, Motohiro Ebisawa, Mario Geller, Santiago Quirce, Susanne Vrtala, Rudolf Valenta, Markus Ollert, Giorgio Walter Canonica, Moises A Calderón, Charles S Barnes, Adnan Custovic, Suwat Benjaponpitak, Arnaldo Capriles-Hulett
Since mite allergens are the most relevant inducers of allergic diseases worldwide, resulting in significant morbidity and increased burden on health services, the International Collaboration in Asthma, Allergy and Immunology (iCAALL), formed by the American Academy of Allergy, Asthma and Immunology (AAAAI), the American College of Allergy, Asthma and Immunology (ACAAI), the European Academy of Allergy and Clinical Immunology (EAACI), and the World Allergy Organization (WAO), has proposed to issue an International Consensus (ICON) on the clinical consequences of mite hypersensitivity...
2017: World Allergy Organization Journal
https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#17
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
#18
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
#19
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
#20
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
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