Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.PA1278
P. Sugier, C. Sarnowski, R. Granell, C. Laprise, D. Jarvis, M. Ege, E. Mutius, M. Dizier, A. J. Henderson, M. Kogevinas, F. Demenais, E. Bouzigon
1Inserm, UMR-946, Genetic Variation and Human Diseases Unit; Université Paris Diderot; Université Pierre et Marie Curie Paris (France), 2Inserm, UMR-946, Genetic Variation and Human Diseases Unit; Université Paris Diderot Paris (France), 3Population Health Sciences, Bristol Medical School, University of Bristol Bristol (United Kingdom), 4Département des sciences fondamentales, Université du Québec à Chicoutimi; Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-Saint-Jean Chicoutimi (Canada), 5Respiratory Epidemiology, Occupational Medicine and Public Health, National Heart and Lung Institute, Imperial College; MRC-PHE Centre for Environment & Health London (United Kingdom), 6Dr von Hauner Children's Hospital, Ludwig Maximilian University; Comprehensive Pneumology Center Munich (CPC-M), German Center for Lung Research Munich (Germany), 7ISGlobal, Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain; CIBER Epidemiología y Salud Pública (CIBERESP), Madrid, Spain; Municipal Institute of Medical Research (IMIM-Hospital del Mar) Barcelona (Spain)
1血清，UMR-946，遗传变异和人类疾病股；巴黎狄德罗大学；巴黎皮埃尔和玛丽·居里大学（法国），2伦敦大学，UMR-946，遗传变异和人类疾病科；巴黎-狄德罗大学（法国），3人口健康科学，布里斯托尔医学院，布里斯托尔大学（英国），魁北克大学基础科学部；Saguenay大学社会服务中心-Lac Saint-Jean Chicoutimi（加拿大），5帝国理工学院国家心肺研究所传染病流行病学、职业医学和公共卫生；MRC-PHE伦敦环境与健康中心（英国），路德维希·马克西米利安大学6Dr von Hauner儿童医院；慕尼黑综合肺病中心（CPC-M），德国慕尼黑肺部研究中心（德国），7ISGlobal，西班牙巴塞罗那；庞培法布拉大学，西班牙加泰罗尼亚巴塞罗那；西班牙马德里流行病研究所；巴塞罗那市医学研究所（IMIM医院）（西班牙）
{"title":"Genome-wide interaction study of environmental tobacco smoke exposure on time-to-asthma onset in childhood","authors":"P. Sugier, C. Sarnowski, R. Granell, C. Laprise, D. Jarvis, M. Ege, E. Mutius, M. Dizier, A. J. Henderson, M. Kogevinas, F. Demenais, E. Bouzigon","doi":"10.1183/13993003.CONGRESS-2018.PA1278","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA1278","url":null,"abstract":"1Inserm, UMR-946, Genetic Variation and Human Diseases Unit; Université Paris Diderot; Université Pierre et Marie Curie Paris (France), 2Inserm, UMR-946, Genetic Variation and Human Diseases Unit; Université Paris Diderot Paris (France), 3Population Health Sciences, Bristol Medical School, University of Bristol Bristol (United Kingdom), 4Département des sciences fondamentales, Université du Québec à Chicoutimi; Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-Saint-Jean Chicoutimi (Canada), 5Respiratory Epidemiology, Occupational Medicine and Public Health, National Heart and Lung Institute, Imperial College; MRC-PHE Centre for Environment & Health London (United Kingdom), 6Dr von Hauner Children's Hospital, Ludwig Maximilian University; Comprehensive Pneumology Center Munich (CPC-M), German Center for Lung Research Munich (Germany), 7ISGlobal, Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain; CIBER Epidemiología y Salud Pública (CIBERESP), Madrid, Spain; Municipal Institute of Medical Research (IMIM-Hospital del Mar) Barcelona (Spain)","PeriodicalId":12709,"journal":{"name":"Genes and Environment","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44229011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.congress-2018.PA1272
D. Naumov, D. Gassan, O. Kotova, A. Prikhodko, Elena Pinegina, J. Perelman, V. Kolosov, Xiang-dong Zhou, Qi Li
Background: Cold airway hyperresponsiveness (CAH) is common in asthma. However, it is not clear, if any changes in the expression of particular mucins are induced by cold air inhalation in vivo. Objectives: The aim of the study was to investigate MUC5AC and MUC5B expression in nasal epithelium of asthma patients under cold temperature. Methods: The study enrolled 33 patients with mild-to-moderate asthma and mean age 37.9±1.89. Isocapnic (5% CO2) cold air (-20°C) hyperventilation was performed through the nose and the mouth during 3-min. Nasal epithelium was obtained by superficial scrape biopsy before and after the hyperventilation. Expression of mucins was evaluated by qRT-PCR and 2-ΔΔCT method. Results: Basal expression of MUC5AC in nasal epithelium was 3-times higher in patients with CAH when compared to patients without the hyperresponsiveness. After the cold air hyperventilation MUC5AC expression in CAH patients remained increased up to 2.3-fold. Generally, cold air produced 1.6-fold increase in MUC5AC expression with slightly higher response in patients without CAH (1.7-fold) and lower – in patients with CAH (1.4-fold). At the same time, CAH was associated with down-regulation of MUC5B before (0.8-fold) and after (0.05-fold) the challenge. Interestingly, cold air inhalation resulted in decrease of MUC5B expression (0.2-fold) in patients with CAH, while in patients without CAH it increased (3.4-fold). Conclusions: The obtained results suggest that cold air may produce differential response in terms of mucins expression. Cold airway hyperresponsiveness is associated with increased MUC5AC and decreased MUC5B expression, what is typical for asthma. This study was supported by RFBR (project 17-54-53162).
{"title":"Cold air alters MUC5AC and MUC5B expression in the airways of asthma patients","authors":"D. Naumov, D. Gassan, O. Kotova, A. Prikhodko, Elena Pinegina, J. Perelman, V. Kolosov, Xiang-dong Zhou, Qi Li","doi":"10.1183/13993003.congress-2018.PA1272","DOIUrl":"https://doi.org/10.1183/13993003.congress-2018.PA1272","url":null,"abstract":"Background: Cold airway hyperresponsiveness (CAH) is common in asthma. However, it is not clear, if any changes in the expression of particular mucins are induced by cold air inhalation in vivo. Objectives: The aim of the study was to investigate MUC5AC and MUC5B expression in nasal epithelium of asthma patients under cold temperature. Methods: The study enrolled 33 patients with mild-to-moderate asthma and mean age 37.9±1.89. Isocapnic (5% CO2) cold air (-20°C) hyperventilation was performed through the nose and the mouth during 3-min. Nasal epithelium was obtained by superficial scrape biopsy before and after the hyperventilation. Expression of mucins was evaluated by qRT-PCR and 2-ΔΔCT method. Results: Basal expression of MUC5AC in nasal epithelium was 3-times higher in patients with CAH when compared to patients without the hyperresponsiveness. After the cold air hyperventilation MUC5AC expression in CAH patients remained increased up to 2.3-fold. Generally, cold air produced 1.6-fold increase in MUC5AC expression with slightly higher response in patients without CAH (1.7-fold) and lower – in patients with CAH (1.4-fold). At the same time, CAH was associated with down-regulation of MUC5B before (0.8-fold) and after (0.05-fold) the challenge. Interestingly, cold air inhalation resulted in decrease of MUC5B expression (0.2-fold) in patients with CAH, while in patients without CAH it increased (3.4-fold). Conclusions: The obtained results suggest that cold air may produce differential response in terms of mucins expression. Cold airway hyperresponsiveness is associated with increased MUC5AC and decreased MUC5B expression, what is typical for asthma. This study was supported by RFBR (project 17-54-53162).","PeriodicalId":12709,"journal":{"name":"Genes and Environment","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43664300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.congress-2018.pa1270
Leila Karimi, L. Lahousse, B. Stricker, J. Lei, K. Verhamme, G. Brusselle
{"title":"ß2-adrenergic receptor polymorphisms and risk of COPD","authors":"Leila Karimi, L. Lahousse, B. Stricker, J. Lei, K. Verhamme, G. Brusselle","doi":"10.1183/13993003.congress-2018.pa1270","DOIUrl":"https://doi.org/10.1183/13993003.congress-2018.pa1270","url":null,"abstract":"","PeriodicalId":12709,"journal":{"name":"Genes and Environment","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48281928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.congress-2018.oa2189
N. Terzikhan, Fanfgui Sun, F. Verhamme, H. Adams, D. Loth, K. Bracke, B. Stricker, L. Lahousse, J. Dupuis, G. Brusselle, George O'Conner
{"title":"Heritability and genome-wide association study of diffusing capacity of the lung (DLCO)","authors":"N. Terzikhan, Fanfgui Sun, F. Verhamme, H. Adams, D. Loth, K. Bracke, B. Stricker, L. Lahousse, J. Dupuis, G. Brusselle, George O'Conner","doi":"10.1183/13993003.congress-2018.oa2189","DOIUrl":"https://doi.org/10.1183/13993003.congress-2018.oa2189","url":null,"abstract":"","PeriodicalId":12709,"journal":{"name":"Genes and Environment","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44377466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.OA2190
Raphael Veil, H. Mohamdi, R. Granell, M. Ege, M. Freidin, M. Imboden, A. James, D. Jarvis, E. Khusnutdinova, C. Laprise, P. Margaritte-Jeannin, Ludmila O. Ogorodova, C. Sarnowski, null Marie-Helene, Dizier A. John Henderson, A. Karunas, E. Mutius, N. Probst-Hensch, B. Leynaert, F. Demenais, E. Bouzigon
1INSERM U946, Genetic Variation and Human Diseases Unit; Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d’Hématologie Paris (France), 2Population Health Sciences, Bristol Medical School, University of Bristol Bristol (United Kingdom), 3Dr von Hauner Children's Hospital, Ludwig Maximilian University; Comprehensive Pneumology Center Munich (CPC-M), German Center for Lung Research Munich (Germany), 4Research Institute of Medical Genetics, Tomsk NRMC Tomsk (Russian Fed.), 5Swiss Tropical and Public Health Institute; University of Basel Basel (Switzerland), 6Busselton Population Medical Research Institute, Department of Pulmonary Physiology and Sleep Medicine, Sir Charles Gairdner Hospital; School of Population Health, University of Western Australia Nedlands (Australia), 7Respiratory Epidemiology, Occupational Medicine and Public Health, National Heart and Lung Institute, Imperial College; MRC-PHE Centre for Environment & Health London (United Kingdom), 8Institute of Biochemistry and Genetics Subdivision of the Ufa Federal Research Center of the Russian Academy of Science; Bashkir State University, Department of Genetics and Fundamental Medicine Ufa (Russian Fed.), 9Département des sciences fondamentales, Université du Québec à Chicoutimi Saguenay (Canada), 10Siberian State Medical University Tomsk (Russian Fed.), 11Inserm, Unit 700, Team of Epidemiology; Université Paris-Diderot Paris 7 Paris (France)
{"title":"Influence of gene-by-sex interaction on time-to-asthma onset: a large-scale genome-wide meta-analysis","authors":"Raphael Veil, H. Mohamdi, R. Granell, M. Ege, M. Freidin, M. Imboden, A. James, D. Jarvis, E. Khusnutdinova, C. Laprise, P. Margaritte-Jeannin, Ludmila O. Ogorodova, C. Sarnowski, null Marie-Helene, Dizier A. John Henderson, A. Karunas, E. Mutius, N. Probst-Hensch, B. Leynaert, F. Demenais, E. Bouzigon","doi":"10.1183/13993003.CONGRESS-2018.OA2190","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.OA2190","url":null,"abstract":"1INSERM U946, Genetic Variation and Human Diseases Unit; Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d’Hématologie Paris (France), 2Population Health Sciences, Bristol Medical School, University of Bristol Bristol (United Kingdom), 3Dr von Hauner Children's Hospital, Ludwig Maximilian University; Comprehensive Pneumology Center Munich (CPC-M), German Center for Lung Research Munich (Germany), 4Research Institute of Medical Genetics, Tomsk NRMC Tomsk (Russian Fed.), 5Swiss Tropical and Public Health Institute; University of Basel Basel (Switzerland), 6Busselton Population Medical Research Institute, Department of Pulmonary Physiology and Sleep Medicine, Sir Charles Gairdner Hospital; School of Population Health, University of Western Australia Nedlands (Australia), 7Respiratory Epidemiology, Occupational Medicine and Public Health, National Heart and Lung Institute, Imperial College; MRC-PHE Centre for Environment & Health London (United Kingdom), 8Institute of Biochemistry and Genetics Subdivision of the Ufa Federal Research Center of the Russian Academy of Science; Bashkir State University, Department of Genetics and Fundamental Medicine Ufa (Russian Fed.), 9Département des sciences fondamentales, Université du Québec à Chicoutimi Saguenay (Canada), 10Siberian State Medical University Tomsk (Russian Fed.), 11Inserm, Unit 700, Team of Epidemiology; Université Paris-Diderot Paris 7 Paris (France)","PeriodicalId":12709,"journal":{"name":"Genes and Environment","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45298709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.OA2194
Diana Chang, D. Choy, T. Bhangale, A. Wuster, Z. Khan, A. Dressen, K. Cuenco, Lorena Riol Blanco, J. Arron, M. Wilson, R. Pappu, T. Yi, D. Lafkas, Tracy Staton, Fang Cai, R. Bauer, C. Holweg, D. Cheung, Hubert C. Chen, Joseph Lin, Alexander R. Abbas, J. Matthews, J. Olsson, Jens Reeder, K. Mukhyala, J. Tom, Amy Cowgill, J. Vogel, Bill Forrest, Matthew J. Brauer, J. Hunkapiller, R. Graham, T. Behrens, B. Yaspan
Introduction: Genome-wide association studies (GWAS) have discovered >30 loci associated with asthma risk. Despite the characterization of asthma as a heterogeneous disorder, most GWAS evaluate asthmatics as a single population. To explore whether genetics are associated with this phenotypic heterogeneity, we whole-genome sequenced (WGS) >5,000 severe, uncontrolled asthmatics who were clinically well characterized. Methods: After quality-control we had WGS data for 3,223 asthmatics of European ancestry. We performed common (minor allele frequency, MAF, ≥1%) variant and rare (MAF Results: Our risk analysis replicated ten previously reported asthma risk loci and identified a novel SNP in THSD4 that was significantly associated with asthma risk (P=4.43x10-8). This locus has been previously associated with both COPD risk and FEV1. In the rare variant burden GWAS, loss-of-function variants in IL33 were associated with decreased risk. We observed no overlap among the top genetic association signals for asthma risk and the other phenotypes. However, we found significant enrichment of genes implicated in Primary Ciliary Dyskinesia, PCD, as well as motile cilia genes, associated with asthma risk in the low-eosinophil asthmatics (P Conclusions: We found a new genome-wide significant association with asthma risk at a SNP in THSD4. We also identified enrichment of PCD genes with asthma risk among eosinophil-low patients. Replication of these findings in an independent cohort is needed to confirm sharing of asthma risk factors with COPD and PCD.
{"title":"A whole genome sequencing association study of severe, uncontrolled asthma","authors":"Diana Chang, D. Choy, T. Bhangale, A. Wuster, Z. Khan, A. Dressen, K. Cuenco, Lorena Riol Blanco, J. Arron, M. Wilson, R. Pappu, T. Yi, D. Lafkas, Tracy Staton, Fang Cai, R. Bauer, C. Holweg, D. Cheung, Hubert C. Chen, Joseph Lin, Alexander R. Abbas, J. Matthews, J. Olsson, Jens Reeder, K. Mukhyala, J. Tom, Amy Cowgill, J. Vogel, Bill Forrest, Matthew J. Brauer, J. Hunkapiller, R. Graham, T. Behrens, B. Yaspan","doi":"10.1183/13993003.CONGRESS-2018.OA2194","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.OA2194","url":null,"abstract":"Introduction: Genome-wide association studies (GWAS) have discovered >30 loci associated with asthma risk. Despite the characterization of asthma as a heterogeneous disorder, most GWAS evaluate asthmatics as a single population. To explore whether genetics are associated with this phenotypic heterogeneity, we whole-genome sequenced (WGS) >5,000 severe, uncontrolled asthmatics who were clinically well characterized. Methods: After quality-control we had WGS data for 3,223 asthmatics of European ancestry. We performed common (minor allele frequency, MAF, ≥1%) variant and rare (MAF Results: Our risk analysis replicated ten previously reported asthma risk loci and identified a novel SNP in THSD4 that was significantly associated with asthma risk (P=4.43x10-8). This locus has been previously associated with both COPD risk and FEV1. In the rare variant burden GWAS, loss-of-function variants in IL33 were associated with decreased risk. We observed no overlap among the top genetic association signals for asthma risk and the other phenotypes. However, we found significant enrichment of genes implicated in Primary Ciliary Dyskinesia, PCD, as well as motile cilia genes, associated with asthma risk in the low-eosinophil asthmatics (P Conclusions: We found a new genome-wide significant association with asthma risk at a SNP in THSD4. We also identified enrichment of PCD genes with asthma risk among eosinophil-low patients. Replication of these findings in an independent cohort is needed to confirm sharing of asthma risk factors with COPD and PCD.","PeriodicalId":12709,"journal":{"name":"Genes and Environment","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49188683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.congress-2018.pa1265
J. Meloche, Lucile Pain, Anne-Marie Boucher-Lafleur, C. Laprise
{"title":"Contribution of the Saguenay–Lac-Saint-Jean asthma familial cohort in the omic landscape of asthma","authors":"J. Meloche, Lucile Pain, Anne-Marie Boucher-Lafleur, C. Laprise","doi":"10.1183/13993003.congress-2018.pa1265","DOIUrl":"https://doi.org/10.1183/13993003.congress-2018.pa1265","url":null,"abstract":"","PeriodicalId":12709,"journal":{"name":"Genes and Environment","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45816792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.PA1263
S. Chanoine, Anaïs Malpertuis, L. Beaumier, Dylan Aïssi, E. Bouzigon, Elodie L. Boulier, X. Shao, M. Lathrop, Elin Grundgerg, I. Pin, F. Demenais, V. Siroux
{"title":"DNA methylation and serum total immunoglobulin E (IgE) levels: a methylome-wide association study in adults with asthma","authors":"S. Chanoine, Anaïs Malpertuis, L. Beaumier, Dylan Aïssi, E. Bouzigon, Elodie L. Boulier, X. Shao, M. Lathrop, Elin Grundgerg, I. Pin, F. Demenais, V. Siroux","doi":"10.1183/13993003.CONGRESS-2018.PA1263","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA1263","url":null,"abstract":"","PeriodicalId":12709,"journal":{"name":"Genes and Environment","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45939704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.PA1271
D. Naumov, D. Gassan, O. Kotova, A. Prikhodko, J. Perelman, V. Kolosov
{"title":"TRPM8 polymorphism as an independent factor of bronchial obstruction in asthma","authors":"D. Naumov, D. Gassan, O. Kotova, A. Prikhodko, J. Perelman, V. Kolosov","doi":"10.1183/13993003.CONGRESS-2018.PA1271","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA1271","url":null,"abstract":"","PeriodicalId":12709,"journal":{"name":"Genes and Environment","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47320965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.OA2187
E. Oelsner, Benjamin M. Smith, Jennifer N. Nguyen, A. Manichaikul, E. Hoffman, E. Ampleford, Latchezar Dimitrov, Xiuquing Guo, K. Taylor, E. Bleecker, Xignan Li, D. Meyers, S. Peters, S. Rich, J. Rotter, R. G. Barr, V. Ortega
Background: The extent to which genetic risk of COPD is mediated by variation in lung structure remains unknown. Aims: To determine whether a recently developed genetic risk score for lung function (GRS; Wain LV et al, Nat Genet 2017; 49(3):416-425) is associated with CT lung structure. Methods: In SPIROMICS, a cohort of COPD subjects and at-risk smokers (≥20 pack-years), a weighted GRS was calculated from 83 of 95 single nucleotide polymorphisms genotyped or imputed across 3 race/ethnic groups. Post-bronchodilator spirometry and CT scan measures (via Apollo/VIDA) of lung density, spatially-matched airway dimensions, and small airway counts (generations 6-9) were evaluated in models adjusted for age, age-squared, sex, height, BMI, principal components, smoking status, pack-years, CT model and voxel size. Results: Among 2,579 participants (average age 63 years, 53% male, 76% non-Hispanic White, 18% African-American, 6% Asian, 37% current smokers, median 44 pack-years, 63% with COPD), higher GRS was associated with lower FEV1 and FEV1/FVC, and the highest GRS quintile was associated with doubling of risk for moderate-to-severe COPD (p Conclusions: Variation in lung structure, whether developmental or acquired, is an important mediator of the genetic risk factors underlying COPD.
{"title":"Late Breaking Abstract - Associations between a COPD genetic risk score and lung structure on computed tomography (CT): SPIROMICS","authors":"E. Oelsner, Benjamin M. Smith, Jennifer N. Nguyen, A. Manichaikul, E. Hoffman, E. Ampleford, Latchezar Dimitrov, Xiuquing Guo, K. Taylor, E. Bleecker, Xignan Li, D. Meyers, S. Peters, S. Rich, J. Rotter, R. G. Barr, V. Ortega","doi":"10.1183/13993003.CONGRESS-2018.OA2187","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.OA2187","url":null,"abstract":"Background: The extent to which genetic risk of COPD is mediated by variation in lung structure remains unknown. Aims: To determine whether a recently developed genetic risk score for lung function (GRS; Wain LV et al, Nat Genet 2017; 49(3):416-425) is associated with CT lung structure. Methods: In SPIROMICS, a cohort of COPD subjects and at-risk smokers (≥20 pack-years), a weighted GRS was calculated from 83 of 95 single nucleotide polymorphisms genotyped or imputed across 3 race/ethnic groups. Post-bronchodilator spirometry and CT scan measures (via Apollo/VIDA) of lung density, spatially-matched airway dimensions, and small airway counts (generations 6-9) were evaluated in models adjusted for age, age-squared, sex, height, BMI, principal components, smoking status, pack-years, CT model and voxel size. Results: Among 2,579 participants (average age 63 years, 53% male, 76% non-Hispanic White, 18% African-American, 6% Asian, 37% current smokers, median 44 pack-years, 63% with COPD), higher GRS was associated with lower FEV1 and FEV1/FVC, and the highest GRS quintile was associated with doubling of risk for moderate-to-severe COPD (p Conclusions: Variation in lung structure, whether developmental or acquired, is an important mediator of the genetic risk factors underlying COPD.","PeriodicalId":12709,"journal":{"name":"Genes and Environment","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46397760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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