Now showing items 1-20 of 32

    • Analyzing networks of phenotypes in complex diseases: methodology and applications in COPD 

      Chu, Jen-hwa; Hersh, Craig P; Castaldi, Peter J; Cho, Michael H; Raby, Benjamin A; Laird, Nan; Bowler, Russell; Rennard, Stephen; Loscalzo, Joseph; Quackenbush, John; Silverman, Edwin K (BioMed Central, 2014)
      Background: The investigation of complex disease heterogeneity has been challenging. Here, we introduce a network-based approach, using partial correlations, that analyzes the relationships among multiple disease-related ...
    • Association between hemochromatosis genotype and lead exposure among elderly men: the normative aging study. 

      Wright, Robert O.; Silverman, Edwin Kepner; Schwartz, Joel David; Tsaih, Shring-Wern; Senter, Jody; Sparrow, David; Weiss, Scott Tillman; Aro, Antonio; Hu, Howard (2004)
      Because body iron burden is inversely associated with lead absorption, genes associated with hemochromatosis may modify body lead burden. Our objective was to determine whether the C282Y and/or H63D hemochromatosis gene ...
    • The Association of a SNP Upstream of INSIG2 with Body Mass Index is Reproduced in Several but Not All Cohorts 

      Emilsson, Valur; Hinney, Anke; Heid, Iris M; Zhu, Xiaofeng; Thorleifsson, Gudmar; Gunnarsdottir, Steinunn; Walters, G. Bragi; Thorsteinsdottir, Unnur; Kong, Augustine; Gulcher, Jeffrey; Nguyen, Thuy Trang; Scherag, André; Pfeufer, Arne; Meitinger, Thomas; Brönner, Günter; Rief, Winfried; Soto-Quiros, Manuel E; Avila, Lydiana; Groop, Leif; Tuomi, Tiinamaija; Isomaa, Bo; Bengtsson, Kristina; Butler, Johannah L; Vollmert, Caren; Celedón, Juan C; Wichmann, H. Erich; Hebebrand, Johannes; Stefansson, Kari; Abecasis, Gonçalo; Lyon, Helen N; Su, Jessica Ann Lasky; Klanderman, Barbara Jordan; Raby, Benjamin Alexander; Silverman, Edwin Kepner; Weiss, Scott Tillman; Laird, Nan M.; Ding, Xiao; Cooper, Richard S; Fox, Caroline; O'Donnell, Christopher Joseph; Lange, Christoph; Hirschhorn, Joel Naom (Public Library of Science, 2007)
      A SNP upstream of the INSIG2 gene, rs7566605, was recently found to be associated with obesity as measured by body mass index (BMI) by Herbert and colleagues. The association between increased BMI and homozygosity for the ...
    • Association of IREB2 and CHRNA3 Polymorphisms with Airflow Obstruction in Severe Alpha-1 Antitrypsin Deficiency 

      Wood, Alice M; Barker, Alan F; Brantly, Mark L; Campbell, Edward J; Eden, Edward; McElvaney, Gerard; Rennard, Stephen I; Sandhaus, Robert A; Stocks, James M; Stoller, James K; Strange, Charlie; Turino, Gerard; Stockley, Robert A; Silverman, Edwin Kepner; Demeo, Dawn Lisa; Kim, Woo Jin (BioMed Central, 2012)
      Background: The development of COPD in subjects with alpha-1 antitrypsin (AAT) deficiency is likely to be influenced by modifier genes. Genome-wide association studies and integrative genomics approaches in COPD have ...
    • Asthma-susceptibility variants identified using probands in case-control and family-based analyses 

      Murphy, Amy J; Soto-Quiros, Manuel E; Avila, Lydiana; Celedón, Juan C; O'Connor, George T; Himes, Blanca Elena; Su, Jessica Ann Lasky; Wu, Ann Chen; Wilk, Jemma B; Hunninghake, Gary Matthew; Klanderman, Barbara Jordan; Lazarus, Ross; Lange, Christoph; Raby, Benjamin Alexander; Silverman, Edwin Kepner; Weiss, Scott Tillman (BioMed Central, 2010)
      Background: Asthma is a chronic respiratory disease whose genetic basis has been explored for over two decades, most recently via genome-wide association studies. We sought to find asthma-susceptibility variants by using ...
    • Characteristics of stable chronic obstructive pulmonary disease patients in the pulmonology clinics of seven Asian cities 

      Oh, Yeon-Mok; Bhome, Arvind B; Boonsawat, Watchara; Gunasekera, Kirthi Dias; Madegedara, Dushantha; Idolor, Luisito; Roa, Camilo; Kim, Woojin; Kuo, Han-Pin; Wang, Chun-Hua; Lan, Le Thi Tuyet; Loh, Li-Cher; Ong, Choo-Khoon; Ng, Alan; Nishimura, Masaharu; Makita, Hironi; Silverman, Edwin K; Lee, Jae Seung; Yang, Ting; Lin, Yingxiang; Wang, Chen; Lee, Sang-Do (Dove Medical Press, 2013)
      Background and objectives Chronic obstructive pulmonary disease (COPD) is responsible for significant morbidity and mortality worldwide. We evaluated the characteristics of stable COPD patients in the pulmonology clinics ...
    • Clinical, physiologic, and radiographic factors contributing to development of hypoxemia in moderate to severe COPD: a cohort study 

      Wells, J. Michael; Estepar, Raul San Jose; McDonald, Merry-Lynn N.; Bhatt, Surya P.; Diaz, Alejandro A.; Bailey, William C.; Jacobson, Francine L.; Dransfield, Mark T.; Washko, George R.; Make, Barry J.; Casaburi, Richard; van Beek, Edwin J. R.; Hoffman, Eric A.; Sciurba, Frank C.; Crapo, James D.; Silverman, Edwin K.; Hersh, Craig P. (BioMed Central, 2016)
      Background: Hypoxemia is a major complication of COPD and is a strong predictor of mortality. We previously identified independent risk factors for the presence of resting hypoxemia in the COPDGene cohort. However, little ...
    • Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation 

      Cho, Michael Hyosang; Washko, George Richard; Hoffmann, Thomas J; Criner, Gerard J; Hoffman, Eric A; Martinez, Fernando J; Laird, Nan M.; Reilly, John; Silverman, Edwin Kepner (BioMed Central, 2010)
      Background: Numerous studies have demonstrated associations between genetic markers and COPD, but results have been inconsistent. One reason may be heterogeneity in disease definition. Unsupervised learning approaches may ...
    • Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD 

      Sun, Wei; Kechris, Katerina; Jacobson, Sean; Drummond, M. Bradley; Hawkins, Gregory A.; Yang, Jenny; Chen, Ting-huei; Quibrera, Pedro Miguel; Anderson, Wayne; Barr, R. Graham; Basta, Patricia V.; Bleecker, Eugene R.; Beaty, Terri; Casaburi, Richard; Castaldi, Peter; Cho, Michael H.; Comellas, Alejandro; Crapo, James D.; Criner, Gerard; Demeo, Dawn; Christenson, Stephanie A.; Couper, David J.; Curtis, Jeffrey L.; Doerschuk, Claire M.; Freeman, Christine M.; Gouskova, Natalia A.; Han, MeiLan K.; Hanania, Nicola A.; Hansel, Nadia N.; Hersh, Craig P.; Hoffman, Eric A.; Kaner, Robert J.; Kanner, Richard E.; Kleerup, Eric C.; Lutz, Sharon; Martinez, Fernando J.; Meyers, Deborah A.; Peters, Stephen P.; Regan, Elizabeth A.; Rennard, Stephen I.; Scholand, Mary Beth; Silverman, Edwin K.; Woodruff, Prescott G.; O’Neal, Wanda K.; Bowler, Russell P. (Public Library of Science, 2016)
      Implementing precision medicine for complex diseases such as chronic obstructive lung disease (COPD) will require extensive use of biomarkers and an in-depth understanding of how genetic, epigenetic, and environmental ...
    • A comparison of visual and quantitative methods to identify interstitial lung abnormalities 

      Kliment, Corrine R.; Araki, Tetsuro; Doyle, Tracy J.; Gao, Wei; Dupuis, Josée; Latourelle, Jeanne C.; Zazueta, Oscar E.; Fernandez, Isis E.; Nishino, Mizuki; Okajima, Yuka; Ross, James C.; Estépar, Raúl San José; Diaz, Alejandro A.; Lederer, David J.; Schwartz, David A.; Silverman, Edwin K.; Rosas, Ivan O.; Washko, George R.; O’Connor, George T.; Hatabu, Hiroto; Hunninghake, Gary M. (BioMed Central, 2015)
      Background: Evidence suggests that individuals with interstitial lung abnormalities (ILA) on a chest computed tomogram (CT) may have an increased risk to develop a clinically significant interstitial lung disease (ILD). ...
    • A diVIsive Shuffling Approach (VIStA) for gene expression analysis to identify subtypes in Chronic Obstructive Pulmonary Disease 

      Menche, Jörg; Sharma, Amitabh; Cho, Michael H; Mayer, Ruth J; Rennard, Stephen I; Celli, Bartolome; Miller, Bruce E; Locantore, Nick; Tal-Singer, Ruth; Ghosh, Soumitra; Larminie, Chris; Bradley, Glyn; Riley, John H; Agusti, Alvar; Silverman, Edwin K; Barabási, Albert-László (BioMed Central, 2014)
      Background: An important step toward understanding the biological mechanisms underlying a complex disease is a refined understanding of its clinical heterogeneity. Relating clinical and molecular differences may allow us ...
    • Faslodex Inhibits Estradiol-Induced Extracellular Matrix Dynamics and Lung Metastasis in a Model of Lymphangioleiomyomatosis 

      Li, Chenggang; Zhou, Xiaobo; Sun, Yang; Zhang, Erik; Mancini, John D.; Parkhitko, Andrey A.; Morrison, Tasha A.; Silverman, Edwin Kepner; Henske, Elizabeth Petri; Yu, Jane J. (American Thoracic Society, 2013)
      Lymphangioleiomyomatosis (LAM) is a destructive lung disease primarily affecting women. Genetic studies indicate that LAM cells carry inactivating tuberous sclerosis complex (TSC)–2 mutations, and metastasize to the lung. ...
    • Folliculin Mutations Are Not Associated with Severe COPD 

      Cho, Michael Hyosang; Klanderman, Barbara Jordan; Litonjua, Augusto Ampil; Sparrow, David; Silverman, Edwin Kepner; Raby, Benjamin Alexander (BioMed Central, 2008)
      Background: Rare loss-of-function folliculin (FLCN) mutations are the genetic cause of Birt-Hogg-Dubé syndrome, a monogenic disorder characterized by spontaneous pneumothorax, fibrofolliculomas, and kidney tumors. ...
    • Gene expression analysis uncovers novel hedgehog interacting protein (HHIP) effects in human bronchial epithelial cells 

      Zhou, Xiaobo; Qiu, Weiliang; Sathirapongsasuti, J. Fah; Cho, Michael Hyosang; Mancini, John D.; Lao, Taotao; Thibault, Derek M.; Litonjua, Augusto Ampil; Bakke, Per S.; Gulsvik, Amund; Lomas, David A.; Beaty, Terri H.; Hersh, Craig Palmer; Anderson, Christopher David; Geigenmuller, Ute; Raby, Benjamin Alexander; Rennard, Stephen I.; Perrella, Mark A.; Choi, Augustine M.K.; Quackenbush, John; Silverman, Edwin Kepner (Elsevier BV, 2013)
      Hedgehog Interacting Protein (HHIP) was implicated in chronic obstructive pulmonary disease (COPD) by genome-wide association studies (GWAS). However, it remains unclear how HHIP contributes to COPD pathogenesis. To identify ...
    • A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry 

      Lutz, Sharon M.; Cho, Michael H.; Young, Kendra; Hersh, Craig P.; Castaldi, Peter J.; McDonald, Merry-Lynn; Regan, Elizabeth; Mattheisen, Manuel; DeMeo, Dawn L.; Parker, Margaret; Foreman, Marilyn; Make, Barry J.; Jensen, Robert L.; Casaburi, Richard; Lomas, David A.; Bhatt, Surya P.; Bakke, Per; Gulsvik, Amund; Crapo, James D.; Beaty, Terri H.; Laird, Nan M.; Lange, Christoph; Hokanson, John E.; Silverman, Edwin K. (BioMed Central, 2015)
      Background: Pulmonary function decline is a major contributor to morbidity and mortality among smokers. Post bronchodilator FEV1 and FEV1/FVC ratio are considered the standard assessment of airflow obstruction. We performed ...
    • A Genome-Wide Association Study of Pulmonary Function Measures in the Framingham Heart Study 

      Walter, Robert E.; Nagle, Michael W.; Brandler, Brian J.; Borecki, Ingrid B.; O'Connor, George T.; McCarthy, Mark I.; Wilk, Jemma B; Chen, Ting-Hsu; Gottlieb, Daniel J; Myers, Richard Hepworth; Silverman, Edwin Kepner; Weiss, Scott Tillman (Public Library of Science, 2009)
      The ratio of forced expiratory volume in one second to forced vital capacity (FEV1/FVC) is a measure used to diagnose airflow obstruction and is highly heritable. We performed a genome-wide association study in 7,691 ...
    • Haploinsufficiency of Hedgehog interacting protein causes increased emphysema induced by cigarette smoke through network rewiring 

      Lao, Taotao; Glass, Kimberly; Qiu, Weiliang; Polverino, Francesca; Gupta, Kushagra; Morrow, Jarrett; Mancini, John Dominic; Vuong, Linh; Perrella, Mark A; Hersh, Craig P; Owen, Caroline A; Quackenbush, John; Yuan, Guo-Cheng; Silverman, Edwin K; Zhou, Xiaobo (BioMed Central, 2015)
      Background: The HHIP gene, encoding Hedgehog interacting protein, has been implicated in chronic obstructive pulmonary disease (COPD) by genome-wide association studies (GWAS), and our subsequent studies identified a ...
    • Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study 

      Begum, Ferdouse; Ruczinski, Ingo; Hokanson, John E.; Lutz, Sharon M.; Parker, Margaret M.; Cho, Michael H.; Hetmanski, Jacqueline B.; Scharpf, Robert B.; Crapo, James D.; Silverman, Edwin K.; Beaty, Terri H. (Public Library of Science, 2016)
      Many well-powered genome-wide association studies have identified genetic determinants of self-reported smoking behaviors and measures of nicotine dependence, but most have not considered the role of structural variants, ...
    • Integration of Mouse and Human Genome-Wide Association Data Identifies KCNIP4 as an Asthma Gene 

      Sheppard, Keith; Berndt, Annerose; Leme, Adriana S.; Myers, Rachel A.; Gignoux, Christopher R.; Gauderman, W. James; Yang, James J.; Mathias, Rasika A.; Romieu, Isabelle; Torgerson, Dara G.; Roth, Lindsey A.; Huntsman, Scott; Eng, Celeste; Klanderman, Barbara; Ziniti, John; Senter-Sylvia, Jody; Szefler, Stanley J.; Lemanske, Robert F.; Zeiger, Robert S.; Strunk, Robert C.; Martinez, Fernando D.; Boushey, Homer; Chinchilli, Vernon M.; Mauger, David; Koppelman, Gerard H.; Postma, Dirkje S.; Nieuwenhuis, Maartje A. E.; Vonk, Judith M.; Lima, John J.; Irvin, Charles G.; Peters, Stephen P.; Kubo, Michiaki; Tamari, Mayumi; Nakamura, Yusuke; Bleecker, Eugene R.; Meyers, Deborah A.; London, Stephanie J.; Gilliland, Frank D.; Burchard, Esteban G.; Nicolae, Dan L.; Ober, Carole; Paigen, Beverly; Churchill, Gary; Himes, Blanca Elena; Levin, Albert M.; Israel, Elliot; Litonjua, Augusto Ampil; Tantisira, Kelan; Raby, Benjamin Alexander; Barnes, Kathleen C.; Williams, L. Keoki; Demeo, Dawn Lisa; Silverman, Edwin Kepner; Shapiro, Steve D.; Weiss, Scott Tillman (Public Library of Science, 2013)
      Asthma is a common chronic respiratory disease characterized by airway hyperresponsiveness (AHR). The genetics of asthma have been widely studied in mouse and human, and homologous genomic regions have been associated with ...
    • ‘Location, Location, Location’: a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate 

      Fier, Heide; Won, Sungho; Prokopenko, Dmitry; AlChawa, Taofik; Ludwig, Kerstin U.; Fimmers, Rolf; Silverman, Edwin K.; Pagano, Marcello; Mangold, Elisabeth; Lange, Christoph (Oxford University Press, 2012)
      Motivation: For the analysis of rare variants in sequence data, numerous approaches have been suggested. Fixed and flexible threshold approaches collapse the rare variant information of a genomic region into a test statistic ...