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Genomes and GenesSpecies | Edwin SilvermanSummaryAffiliation: Harvard University Country: USA Publications
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Publications
COPD association and repeatability of blood biomarkers in the ECLIPSE cohortJennifer A Dickens
Department of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Cambridge, UK
Respir Res 12:146. 2011..A panel of putative blood biomarkers was assessed in a subgroup of the Evaluation of COPD Longitudinally to Identify Surrogate Endpoints (ECLIPSE) cohort...
The clinical features of the overlap between COPD and asthmaMegan Hardin
Channing Laboratory, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, USA
Respir Res 12:127. 2011..The coexistence of COPD and asthma is widely recognized but has not been well described. This study characterizes clinical features, spirometry, and chest CT scans of smoking subjects with both COPD and asthma...
Characterisation of COPD heterogeneity in the ECLIPSE cohortAlvar Agusti
Thorax Institute, Hospital Clinic, IDIBAPS, Universitat de Barcelona, Spain
Respir Res 11:122. 2010..Chronic obstructive pulmonary disease (COPD) is a complex condition with pulmonary and extra-pulmonary manifestations. This study describes the heterogeneity of COPD in a large and well characterised and controlled COPD cohort (ECLIPSE)...
Peripheral blood gene expression profiles in COPD subjectsSoumyaroop Bhattacharya
Neonatology Division and Center for Pediatric Biomedical Research, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, 14642, NY
J Clin Bioinforma 1:12. 2011..These results contribute to our understanding of gene expression changes in the peripheral blood of patients with COPD and may provide insight into potential mechanisms involved in the disease...
Progress in chronic obstructive pulmonary disease geneticsEdwin K Silverman
Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Proc Am Thorac Soc 3:405-8. 2006..Future directions for COPD research include genomewide association studies and animal model genetic studies...
Haplotype thinking in lung diseaseEdwin K Silverman
Channing Laboratory and Pulmonary and Critical Care Division, Brigham and Women s Hospital, Boston, Massachusetts, USA
Proc Am Thorac Soc 4:4-8. 2007....
Exacerbations in chronic obstructive pulmonary disease: do they contribute to disease progression?Edwin K Silverman
Channing Laboratory and Pulmonary and Critical Care Division, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Proc Am Thorac Soc 4:586-90. 2007....
Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitisE K Silverman
Channing Laboratory, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Respir Crit Care Med 157:1770-8. 1998..The increased risk to relatives of early-onset COPD probands for reduced FEV1 and chronic bronchitis, limited to current or ex-smokers, suggests genetic risk factor(s) for COPD that are expressed in response to cigarette smoking...
Gender-related differences in severe, early-onset chronic obstructive pulmonary diseaseE K Silverman
Channing Laboratory, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Am J Respir Crit Care Med 162:2152-8. 2000..56, 95% CI 1.08-11.71), and bronchodilator response greater than 10% of baseline FEV(1) (OR 4.74, 95% CI 1.91-11.75). These results suggest that women may be more susceptible to the development of severe COPD...
Linkage analysis of alpha 1-antitrypsin deficiency: lessons for complex diseasesE K Silverman
Channing Laboratory, Brigham and Women s Hospital, Boston, Mass 02114, USA
Hum Hered 52:223-32. 2001..We have used the protease inhibitor (PI) type as a genetic marker rather than a disease gene, and we have performed linkage analysis between PI type and serum A1AT level and spirometry-related phenotypes...
Genetic Epidemiology of COPDEdwin K Silverman
Channing Laboratory and Pulmonary and Critical Care Division, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA
Chest 121:1S-6S. 2002
Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypesEdwin K Silverman
Channing Laboratory, Division of Pulmonary and Critical Medicine, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, 181 Longwood Avenue, Boston, MA 02115, USA
Hum Mol Genet 11:623-32. 2002..In smokers only, the maximum two point LOD score for mild airflow obstruction was 3.14. These observations provide suggestive evidence that there is a locus on chromosome 12p which contributes to susceptibility to early-onset COPD...
Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary diseaseEdwin K Silverman
Channing Laboratory and Division of Pulmonary and Critical Medicine, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 70:1229-39. 2002..The significant linkage of FEV(1)/FVC to chromosome 2q could reflect one or more genes influencing the development of airflow obstruction or dysanapsis...
Attempted replication of reported chronic obstructive pulmonary disease candidate gene associationsCraig P Hersh
Channing Laboratory, Pulmonary and Critical Care Division, and Hematology Oncology Division, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Respir Cell Mol Biol 33:71-8. 2005..03). Although some evidence for replication was found for SFTPB and HMOX1, none of the previously published COPD genetic associations was convincingly replicated across both study designs...
Genetic association analysis of COPD candidate genes with bronchodilator responsivenessWoo Jin Kim
Channing Laboratory, Brigham and Women s Hospital, Boston, MA 02115, USA
Respir Med 103:552-7. 2009..SNPs in SFTPB, TGFB1, and GSTP1 genes were not associated with BDR. In conclusion, a polymorphism of EPHX1 was associated with bronchodilator responsiveness phenotypes in subjects with severe COPD...
Quantitative airway assessment on computed tomography in patients with alpha1-antitrypsin deficiencyTsuneo Yamashiro
Center for Pulmonary Functional Imaging, Brigham and Women s Hospital, Boston, Massachusetts, USA
COPD 6:468-77. 2009..Emphysema of the lower lung is the predominant component; however, airway disease also has a significant impact on airflow limitation in AATD...
IL10 gene polymorphisms are associated with asthma phenotypes in childrenHelen Lyon
Channing Laboratory, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Genet Epidemiol 26:155-65. 2004..008 and 0.043, respectively). Polymorphisms in IL10 are associated with asthma phenotypes in this cohort. Further studies of variation in the IL10 gene may help elucidate the mechanism of asthma development in children...
Genetic associations with hypoxemia and pulmonary arterial pressure in COPDPeter J Castaldi
Channing Laboratory, Brigham and Women s Hospital, 181 Longwood Ave, Boston, MA 02115, USA
Chest 135:737-44. 2009..We sought to identify genetic polymorphisms associated with these traits in a population of patients with severe COPD from the National Emphysema Treatment Trial (NETT)...
A genome-wide association study of pulmonary function measures in the Framingham Heart StudyJemma B Wilk
Department of Neurology, Boston University School of Medicine, Boston, MA, USA
PLoS Genet 5:e1000429. 2009..Though it is unclear what gene or regulatory effect explains the association, the region warrants further investigation...
The COPD genetic association compendium: a comprehensive online database of COPD genetic associationsPeter J Castaldi
Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, 800 Washington Street, Boston, MA 02111, USA
Hum Mol Genet 19:526-34. 2010..Quantitative meta-analysis identified four variants in GSTM1, TGFB1, TNF and SOD3 that show statistically significant evidence of association with COPD susceptibility...
Family-based association analysis of beta2-adrenergic receptor polymorphisms in the childhood asthma management programEdwin K Silverman
Channing Laboratory, Brigham and Women s Hospital, Boston, Mass 02115, USA
J Allergy Clin Immunol 112:870-6. 2003..Beta2-adrenergic receptor (B2AR) polymorphisms have been associated with a variety of asthma-related phenotypes, but association results have been inconsistent across different studies...
TOLL-like receptor 10 genetic variation is associated with asthma in two independent samplesRoss Lazarus
Channing Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Respir Crit Care Med 170:594-600. 2004..026 for c.+1031G>A). Consistent association in two independent samples and association with an intermediate phenotype provides strong support for TLR10 genetic variation contributing to asthma risk...
Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigationMichael H Cho
Channing Laboratory, Brigham and Women s Hospital, Boston, MA, USA
Respir Res 11:30. 2010..One reason may be heterogeneity in disease definition. Unsupervised learning approaches may assist in understanding disease heterogeneity...
Genome-wide linkage analysis of pulmonary function in families of children with asthma in Costa RicaCraig P Hersh
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, 181 Longwood Avenue, Boston, MA 02115, USA
Thorax 62:224-30. 2007..A study was undertaken to identify genomic regions containing susceptibility loci for pulmonary function and bronchodilator responsiveness (BDR) in Costa Ricans...
MMP12, lung function, and COPD in high-risk populationsGary M Hunninghake
Channing Laboratory and Center for Genomic Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
N Engl J Med 361:2599-608. 2009..Genetic variants influencing lung function in children and adults may ultimately lead to the development of chronic obstructive pulmonary disease (COPD), particularly in high-risk groups...
Variants in FAM13A are associated with chronic obstructive pulmonary diseaseMichael H Cho
Channing Laboratory, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
Nat Genet 42:200-2. 2010..2 x 10(-11), combined odds ratio in case-control studies 0.76, 95% confidence interval 0.69-0.83)...
Airway count and emphysema assessed by chest CT imaging predicts clinical outcome in smokersAlejandro A Diaz
Pulmonary and Critical Care Medicine Division, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Chest 138:880-7. 2010....
Genetics of COPD and emphysemaEmily S Wan
Channing Laboratory and the Pulmonary and Critical Care Division, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
Chest 136:859-66. 2009..These improved phenotypes can be applied in genome-wide association studies and will likely lead to the discovery of additional susceptibility loci and therapeutic targets...
Physiological and computed tomographic predictors of outcome from lung volume reduction surgeryGeorge R Washko
Pulmonary and Critical Care Division, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Respir Crit Care Med 181:494-500. 2010..We therefore sought to examine radiographic and physiologic predictors of surgical outcomes in a large, multicenter clinical investigation, the National Emphysema Treatment Trial...
Epidemiology, radiology, and genetics of nicotine dependence in COPDDeog Kyeom Kim
Channing Laboratory, Brigham and Women s Hospital, Boston, MA, USA
Respir Res 12:9. 2011..This study was performed to elucidate the relationship between nicotine dependence, genetic susceptibility to nicotine dependence, and volumetric CT findings in smokers...
Parsing the effects of individual SNPs in candidate genes with family dataThomas J Hoffmann
Department of Biostatistics, Harvard School of Public Health, Boston, Mass 02115, USA
Hum Hered 69:91-103. 2010..Lastly, we utilize these tests to analyze a continuous lung function phenotype as a proxy for asthma in the Childhood Asthma Management Program. The methods are implemented in the free R package fbati...
Quantitative CT measurement of cross-sectional area of small pulmonary vessel in COPD: correlations with emphysema and airflow limitationShin Matsuoka
Department of Radiology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Acad Radiol 17:93-9. 2010....
Automatic lung lobe segmentation using particles, thin plate splines, and maximum a posteriori estimationJames C Ross
Channing Laboratory, Brigham and Women s Hospital, Boston, MA, USA
Med Image Comput Comput Assist Interv 13:163-71. 2010..Results indicate that our algorithm performs comparably to pulmonologist-generated lung lobe segmentations on a set of challenging cases...
Sensitization to Ascaris lumbricoides and severity of childhood asthma in Costa RicaGary M Hunninghake
Channing Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
J Allergy Clin Immunol 119:654-61. 2007..Little is known about sensitization (defined as a positive IgE) to helminths and disease severity in patients with asthma...
Microarray data-based prioritization of chronic obstructive pulmonary disease susceptibility genesSoumyaroop Bhattacharya
Pulmonary Medicine, Thorn 8, Brigham and Womens's Hospital, 75 Francis Street, Boston, MA 02115, USA
Proc Am Thorac Soc 3:472. 2006
Lung volumes and emphysema in smokers with interstitial lung abnormalitiesGeorge R Washko
Pulmonary and Critical Care Division, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
N Engl J Med 364:897-906. 2011..Cigarette smoking is associated with emphysema and radiographic interstitial lung abnormalities. The degree to which interstitial lung abnormalities are associated with reduced total lung capacity and the extent of emphysema is not known...
Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroidsKelan G Tantisira
Channing Laboratory, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Hum Mol Genet 13:1353-9. 2004....
The SERPINE2 gene is associated with chronic obstructive pulmonary diseaseDawn DeMeo
Channing Laboratory, Harvard Medical School, 181 Longwood Avenue, Boston, MA 02115, USA
Proc Am Thorac Soc 3:502. 2006
Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa RicaBenjamin A Raby
Channing Laboratory and Respiratory Disorders Program, Department of Medicine, Brigham and Women s Hospital, 181 Longwood Avenue, Boston, MA 02115, USA
Hum Mol Genet 16:243-53. 2007..JAG1 is a hematopoetic cell growth factor that may regulate normal B-cell development. This is the first demonstration of a possible genetic basis for differences in total IgE between sexes...
Modifying effects of the HFE polymorphisms on the association between lead burden and cognitive declineFlorence T Wang
Department of Environmental Health, Harvard School of Public Health, Boston, Massachusetts, USA
Environ Health Perspect 115:1210-5. 2007..As iron and lead promote oxidative damage, and hemochromatosis (HFE) gene polymorphisms increase body iron burden, HFE variant alleles may modify the lead burden and cognitive decline relationship...
Airway wall attenuation: a biomarker of airway disease in subjects with COPDGeorge R Washko
Pulmonary and Critical Care Division, Dept of Medicine, Brigham and Women s Hospital, 75 Francis St, Boston, MA 02115, USA
J Appl Physiol 107:185-91. 2009..These latter findings suggest that the quantitative assessment of airway wall attenuation may offer complementary information to WA% in characterizing airway disease in subjects with COPD...
Lung extraction, lobe segmentation and hierarchical region assessment for quantitative analysis on high resolution computed tomography imagesJames C Ross
Channing Laboratory, Brigham and Women s Hospital, Boston, MA, USA
Med Image Comput Comput Assist Interv 12:690-8. 2009....
Computed tomography phenotypes in severe, early-onset chronic obstructive pulmonary diseaseCraig P Hersh
Channing Laboratory, Brigham and Women s Hospital, Boston, MA 02115, USA
COPD 4:331-7. 2007..Using clinical chest CT scans, we were able to identify an airway-predominant subgroup with asthma-like features among subjects with severe, early-onset COPD...
National Emphysema Treatment Trial state of the art: genetics of emphysemaCraig P Hersh
Channing Laboratory, Center for Genomic Medicine, and Division of Pulmonary and Critical Care Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Proc Am Thorac Soc 5:486-93. 2008....
A common mitochondrial haplogroup is associated with elevated total serum IgE levelsBenjamin A Raby
Channing Laboratory, Brigham and Women s Hospital, Boston, MA 02115, USA
J Allergy Clin Immunol 120:351-8. 2007..Mitochondria are inherited exclusively through the maternal line, raising the possibility that sequence variation in the mitochondrial genome contributes to the pathogenesis of asthma and atopy...
Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility geneDawn L DeMeo
Channing Laboratory, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Hum Genet 85:493-502. 2009..4 x 10(-4). IREB2 protein and mRNA were increased in lung-tissue samples from COPD subjects in comparison to controls. In summary, gene-expression and genetic-association results have implicated IREB2 as a COPD susceptibility gene...
Pulmonary function and emphysema in Williams-Beuren syndromeEmily S Wan
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts, USA
Am J Med Genet A 152:653-6. 2010..Further investigation may elucidate the pathogenesis of non-smoking-related emphysema...
Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary diseaseMichael H Cho
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Am J Respir Cell Mol Biol 40:751-5. 2009..Two common nonsynonymous SNPs did not demonstrate significant associations in either a family-based or case-control analysis. Exonic SNPs in the elastin gene do not appear to be common risk factors for severe COPD...
High-resolution melting curve analysis of genomic and whole-genome amplified DNAMichael H Cho
Channing Laboratory, Brigham and Women s Hospital, Boston, MA 02115, USA
Clin Chem 54:2055-8. 2008..Few studies have compared the performance of high-resolution DNA melting curve analysis (HRM) in genomic and whole-genome amplified (WGA) DNA...
Folliculin mutations are not associated with severe COPDMichael H Cho
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
BMC Med Genet 9:120. 2008....
Transforming growth factor-beta receptor-3 is associated with pulmonary emphysemaCraig P Hersh
Channing Laboratory and Center for Genomic Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Am J Respir Cell Mol Biol 41:324-31. 2009....
Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility geneCraig P Hersh
Channing Laboratory, Brigham and Women s Hospital, 181 Longwood Avenue, Boston, MA 02115, USA
Am J Respir Crit Care Med 182:605-13. 2010..Several family-based studies have identified genetic linkage for lung function and airflow obstruction to chromosome 2q...
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility geneBlanca E Himes
Harvard MIT Division of Health Sciences and Technology, Cambridge, MA, 02138, USA
Am J Hum Genet 84:581-93. 2009..Further study of PDE4D variants might lead to improved understanding of the role of PDE4D in asthma pathophysiology and the efficacy of PDE4 inhibitor medications...
Polymorphisms in IL13, total IgE, eosinophilia, and asthma exacerbations in childhoodGary M Hunninghake
Channing Laboratory Division of Pulmonary and Critical Care Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
J Allergy Clin Immunol 120:84-90. 2007..It is unclear whether single nucleotide polymorphisms (SNPs) in the gene for IL-13 (IL13) influence asthma severity and/or asthma morbidity...
The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohortsHelen N Lyon
Program in Genomics, Divisions of Genetics and Endocrinology, Children s Hospital, Boston, Massachusetts, USA
PLoS Genet 3:e61. 2007....
Eotaxin polymorphisms and serum total IgE levels in children with asthmaBenjamin A Raby
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
J Allergy Clin Immunol 117:298-305. 2006..Family-based association studies of CCL11 genetic variants have not been reported to date...
Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary diseaseLyle J Palmer
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts, USA
Hum Mol Genet 12:1199-210. 2003..This study has also identified several genomic regions that could contain loci regulating BDR in early-onset COPD families...
A multivariate family-based association test using generalized estimating equations: FBAT-GEEChristoph Lange
Department of Biostatistics, Harvard School of Public Health, 655 Huntington Avenue, Boston, MA 02115, USA
Biostatistics 4:195-206. 2003..Application of the proposed test to an asthma study illustrates the power of the approach...
Apolipoprotein E genotype predicts 24-month bayley scales infant development scoreRobert O Wright
Department of Pediatrics, Children s Hospital, Boston, Massachusett 02115, USA
Pediatr Res 54:819-25. 2003..These results suggest that subjects with the E4 isoform of APOE may have advantages over those with the E2 or E3 isoforms with respect to early life neuronal/brain development...
Genome-wide linkage of forced mid-expiratory flow in chronic obstructive pulmonary diseaseDawn L DeMeo
Channing Laboratory and Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Respir Crit Care Med 170:1294-301. 2004..LOD scores of greater than two were also observed for chromosomes 16, 20, and 22 with the smokers-only analysis, which may suggest gene-by-smoking interactions in these regions...
Genomic screening and replication using the same data set in family-based association testingKristel Van Steen
Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts 02115, USA
Nat Genet 37:683-91. 2005..Our methods use the entire sample and do not require separate screening and validation samples to establish genome-wide significance, as population-based designs do...
Association of defensin beta-1 gene polymorphisms with asthmaHara Levy
Children s Hospital, Division of Pulmonary Medicine, Boston, MA, USA
J Allergy Clin Immunol 115:252-8. 2005..Defensins are antimicrobial peptides that may take part in airway inflammation and hyperresponsiveness...
A new powerful non-parametric two-stage approach for testing multiple phenotypes in family-based association studiesChristoph Lange
Department of Biostatistics, Harvard School of Public Health, Boston, Mass 02115, USA
Hum Hered 56:10-7. 2003..The practical importance of our testing strategy is illustrated by applications to the Childhood Asthma Management Program asthma data sets...
Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypesBenjamin A Raby
Channing Laboratory, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, USA
Hum Mol Genet 12:1973-9. 2003..Fine mapping efforts for these loci are warranted...
Single nucleotide polymorphisms in innate immunity genes: abundant variation and potential role in complex human diseaseRoss Lazarus
Channing Laboratory, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Immunol Rev 190:9-25. 2002..These and other factors must be taken into account in the design and analysis of disease association studies...
Association between hemochromatosis genotype and lead exposure among elderly men: the normative aging studyRobert O Wright
Department of Pediatrics, Children s Hospital, Boston, Massachusetts 02115, USA
Environ Health Perspect 112:746-50. 2004..Among elderly men, subjects with HFE variants had lower patella lead levels. These effects may be mediated by alterations in lead toxicokinetics via iron metabolic pathways regulated by the HFE gene product and body iron stores...
Genetic determinants of emphysema distribution in the national emphysema treatment trialDawn L DeMeo
Channing Laboratory, Pulmonary and Critical Care Division, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Respir Crit Care Med 176:42-8. 2007....
Single-nucleotide polymorphisms in the interleukin-10 gene: differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groupsRoss Lazarus
Channing Laboratory, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Genomics 80:223-8. 2002..No SNP caused amino acid changes. Differences in pairwise linkage-disequilibrium (LD) patterns and in SNP and haplotype frequency distributions among the three populations may be of potential importance for disease association studies...
Genetic linkage and association analysis of COPD-related traits on chromosome 8pCraig P Hersh
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
COPD 3:189-94. 2006..07). Despite the reduced support for linkage upon further analysis, it remains possible that chromosome 8p contains a gene that influences COPD susceptibility. There is marginal, though not convincing, evidence for association with MSR1...
Polymorphisms in toll-like receptor 4 are not associated with asthma or atopy-related phenotypesBenjamin A Raby
Channing Laboratory, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Respir Crit Care Med 166:1449-56. 2002..Based on these results, we found no evidence that genetic variation in TLR4 contributes to asthma susceptibility...
Inflammatory markers of lung disease in adult patients with cystic fibrosisHara Levy
Division of Pulmonary Medicine, Children s Hospital Boston, Boston, Massachusetts, USA
Pediatr Pulmonol 42:256-62. 2007..We hypothesized that levels of serum biomarkers would correlate with clinical course of CF as defined by pulmonary function testing (FEV1)...
Asthma-susceptibility variants identified using probands in case-control and family-based analysesBlanca E Himes
Harvard MIT Division of Health Sciences and Technology, Cambridge, MA, USA
BMC Med Genet 11:122. 2010..We sought to find asthma-susceptibility variants by using probands from a single population in both family-based and case-control association designs...
Genome-wide association study of smoking behaviours in patients with COPDMateusz Siedlinski
Channing Laboratory, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
Thorax 66:894-902. 2011..Associations of CHRNA3/CHRNA5 and CYP2A6 loci with CPD and DBH with smoking cessation are also likely of importance in the smoking behaviours of patients with COPD...
Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPDNadia N Hansel
Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA
Hum Genet 132:79-90. 2013..Genes within these regions were expressed in relevant lung cells and their expression related to airflow limitation suggesting they may represent novel candidate genes for COPD susceptibility...
Genetics of sputum gene expression in chronic obstructive pulmonary diseaseWeiliang Qiu
Channing Laboratory, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
PLoS ONE 6:e24395. 2011..Integrative analysis of GWAS and gene expression data from relevant tissue from diseased subjects has located potential functional variants in two known COPD genes and has identified a novel COPD susceptibility locus...
Association of COPD candidate genes with computed tomography emphysema and airway phenotypes in severe COPDW J Kim
Channing Laboratory, Brigham and Women s Hospital, Boston, MA, 02115 USA
Eur Respir J 37:39-43. 2011..Further investigation will be required to replicate these genetic associations for emphysema and airway wall phenotypes...
Lower bronchodilator responsiveness in Puerto Rican than in Mexican subjects with asthmaEsteban Gonzalez Burchard
University of California, San Francisco, 94143 0833, USA
Am J Respir Crit Care Med 169:386-92. 2004..We conclude that Puerto Ricans with asthma respond less to albuterol than do Mexicans with asthma. These findings underscore the need for additional research on racial/ethnic differences in asthma morbidity and response to therapy...
Maternal history, sensitization to allergens, and current wheezing, rhinitis, and eczema among children in Costa RicaManuel E Soto-Quiros
Department of Pediatrics, , San Jos, Costa Rica
Pediatr Pulmonol 33:237-43. 2002..The interaction between familial factors and lifestyle changes resulting from social reforms implemented 60 years ago may explain the high prevalence of atopic diseases in Costa Rica...
Using the noninformative families in family-based association tests: a powerful new testing strategyChristoph Lange
Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA
Am J Hum Genet 73:801-11. 2003....
ADAM33 is not associated with asthma in Puerto Rican or Mexican populationsDenise L Lind
University of California at San Francisco, San Francisco, CA 94143-0833, USA
Am J Respir Crit Care Med 168:1312-6. 2003..We conclude that the ADAM33 gene is not an important risk factor for asthma or for asthma-associated phenotypes in Mexicans or in Puerto Ricans...
Single-nucleotide polymorphisms in the Toll-like receptor 9 gene (TLR9): frequencies, pairwise linkage disequilibrium, and haplotypes in three U.S. ethnic groups and exploratory case-control disease association studiesRoss Lazarus
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
Genomics 81:85-91. 2003..This study suggests that there is substantial diversity in human TLR9, possibly associated with asthma in Europeans but not African Americans. No association was detected with three other diseases potentially related to innate immunity...
Testing and estimating gene-environment interactions in family-based association studiesStijn Vansteelandt
Department of Applied Mathematics and Computer Science, Ghent University, Krijgslaan 281, S9, B 9000 Gent, Belgium
Biometrics 64:458-67. 2008..Simulation studies show that the proposed methodology is sufficiently powered for realistic sample sizes and that it provides valid tests and effect size estimators in the presence of admixture and stratification...
Family-based tests for associating haplotypes with general phenotype data: application to asthma geneticsSteve Horvath
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
Genet Epidemiol 26:61-9. 2004..00005) and the measure of bronchodilator responsiveness (P value =0.016)...
Association of vitamin D receptor gene polymorphisms with childhood and adult asthmaBenjamin A Raby
Channing Laboratory, Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Respir Crit Care Med 170:1057-65. 2004..These results suggest that VDR influences asthma and allergy susceptibility in a complex manner...
Xenobiotic metabolizing enzyme gene polymorphisms predict response to lung volume reduction surgeryCraig P Hersh
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, Boston, MA, USA
Respir Res 8:59. 2007..In the National Emphysema Treatment Trial (NETT), marked variability in response to lung volume reduction surgery (LVRS) was observed. We sought to identify genetic differences which may explain some of this variability...
IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiencyDawn L DeMeo
Brigham and Women s Hospital, Channing Laboratory, 181 Longwood Avenue, Boston, MA 02115, USA
Am J Respir Cell Mol Biol 38:114-20. 2008..Haplotype analysis of IL10 SNPs suggested the strongest association with IL10 promoter SNPs. IL10 is likely an important modifier gene for the development of COPD in individuals with severe AAT deficiency...
Interobserver variability in the determination of upper lobe-predominant emphysemaCraig P Hersh
Channing Laboratory, Brigham and Women s Hospital, 181 Longwood Ave, Boston, MA 02115, USA
Chest 131:424-31. 2007..At many centers, radiologists and pulmonary physicians both review the images, but the agreement between readers from these specialties is not known...
On the replication of genetic associations: timing can be everything!Jessica Lasky-Su
SUNY Upstate Medical University, Syracuse, NY 13210, USA
Am J Hum Genet 82:849-58. 2008..If the specifics of age- or time-varying genetic effects are not considered in the selection of both the follow-up samples and in the statistical analysis, important genetic associations may be missed...
Airway wall thickening and emphysema show independent familial aggregation in chronic obstructive pulmonary diseaseBipen D Patel
Department of Medicine, University of Cambridge, Cambridge, UK
Am J Respir Crit Care Med 178:500-5. 2008..It is unclear whether airway wall thickening and emphysema make independent contributions to airflow limitation in chronic obstructive pulmonary disease (COPD) and whether these phenotypes cluster within families...
Significant linkage to airway responsiveness on chromosome 12q24 in families of children with asthma in Costa RicaJuan C Celedon
Channing Laboratory, Department of Medicine and Respiratory Disorders Program, Brigham and Women s Hospital, 181 Longwood Avenue, Boston, MA 02115, USA
Hum Genet 120:691-9. 2007..Our results suggest that chromosome 12q24.31 contains a locus (or loci) that influence a critical intermediate phenotype of asthma (airway responsiveness) in Costa Ricans...
Genetic determinants of functional impairment in chronic obstructive pulmonary diseaseCraig P Hersh
Channing Laboratory, Brigham and Women's Hospital, 181 Longwood Avenue, Boston, MA 02115, USA
Proc Am Thorac Soc 3:476. 2006
Genetic association analysis of functional impairment in chronic obstructive pulmonary diseaseCraig P Hersh
Channing Laboratory, Brigham and Women s Hospital, 181 Longwood Avenue, Boston, MA 02115, USA
Am J Respir Crit Care Med 173:977-84. 2006..This variation may reflect different COPD subtypes, which may have different genetic predispositions...
The SERPINE2 gene is associated with chronic obstructive pulmonary diseaseDawn L DeMeo
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Hum Genet 78:253-64. 2006....
T-bet polymorphisms are associated with asthma and airway hyperresponsivenessBenjamin A Raby
M D C M, Channing Laboratory, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Respir Crit Care Med 173:64-70. 2006..Little is known regarding the role of genetic variation surrounding T-bet in the development of human AHR...
A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary diseaseCassandra M Kelleher
Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, Missouri, USA
Am J Respir Cell Mol Biol 33:355-62. 2005..These results suggest that the G773D variant confers structural and functional consequences relevant to the pathogenesis of COPD...
CD14 tobacco gene-environment interaction modifies asthma severity and immunoglobulin E levels in Latinos with asthmaShweta Choudhry
University of California San Francisco, DNA Bank Lung Biology Center, San Francisco General Hospital, Bldg 30, 5th Floor, Room 3501H, 1001 Potrero Avenue, San Francisco, CA 94110, USA
Am J Respir Crit Care Med 172:173-82. 2005..A recent family-based genomewide screen revealed linkage between the 5q31 region and the diagnosis of asthma, but only in those exposed to environmental tobacco smoke (ETS). Among the candidate genes in this region is CD14...
Pharmacogenetic differences in response to albuterol between Puerto Ricans and Mexicans with asthmaShweta Choudhry
University of California San Francisco, San Francisco, CA 94143 0833, USA
Am J Respir Crit Care Med 171:563-70. 2005..We tested the association of beta(2)AR genotypes with asthma severity and bronchodilator response to albuterol in Puerto Ricans and Mexicans with asthma...
Extended haplotype in the tumor necrosis factor gene cluster is associated with asthma and asthma-related phenotypesAdrienne G Randolph
Channing Laboratory, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, USA
Am J Respir Crit Care Med 172:687-92. 2005..The TNF position -308 and LTA NcoI polymorphisms are believed to influence TNF transcription and secretion, respectively...
The IL12B gene is associated with asthmaAdrienne G Randolph
Channing Laboratory, Brigham and Women s Hospital, Department of Anesthesia, Children s Hospital, and Harvard Medical School, Boston, MA, USA
Am J Hum Genet 75:709-15. 2004..IL12B may be an important asthma gene...
The SERPINE2 gene is associated with chronic obstructive pulmonary disease in two large populationsGuohua Zhu
GlaxoSmithKline R and D, 5 Moore Drive, Research Triangle Park, NC 27709, USA
Am J Respir Crit Care Med 176:167-73. 2007....
Research Grants
- Genetics of COPD in NETTEdwin Silverman; Fiscal Year: 2005..abstract_text> ..
- Genetic Modifiers of Alpha 1-Antitrypsin DeficiencyEdwin Silverman; Fiscal Year: 2005....
- Fine Mapping of COPD Susceptibility GenesEdwin Silverman; Fiscal Year: 2007..abstract_text> ..
- Genetic Determinants of COPD in Diverse Ethnic GroupsEdwin Silverman; Fiscal Year: 2007..The overall goal of this proposal is to test the hypothesis that shared genetic determinants influence the development of COPD in diverse ethnic groups. ..
- Genetic Epidemiology of COPDEdwin Silverman; Fiscal Year: 2007..Finally, SNPs in the identified COPD genes from Aim 2 will be tested for association with these COPD subtypes...
- Fine Mapping of COPD Susceptibility GenesEdwin Silverman; Fiscal Year: 2009..Genetic association studies of common variants will be undertaken in multiple populations, and functional studies of identified variants will be performed. ..
- Fine Mapping of COPD Susceptibility GenesEdwin K Silverman; Fiscal Year: 2010..Genetic association studies of common variants will be undertaken in multiple populations, and functional studies of identified variants will be performed. ..
- APPROACHES TO THE GENETICS OF COPDEdwin Silverman; Fiscal Year: 2003..abstract_text> ..
- Genetic Determinants of COPD in Diverse Ethnic GroupsEdwin K Silverman; Fiscal Year: 2010..The overall goal of this proposal is to test the hypothesis that shared genetic determinants influence the development of COPD in diverse ethnic groups. ..
