Genetics

Demographic and clinical characteristics of patients with α₁-antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO
María Torres-Durán, José Luis López-Campos, Juan Luis Rodríguez-Hermosa, Cristina Esquinas, Cristina Martínez-González, José María Hernández-Pérez, Carlota Rodríguez, Ana Bustamante, Francisco Casas-Maldonado, Miriam Barrecheguren, Cruz González, Marc Miravitlles

ERJ Open Research Jul 2022, 8 (3) 00213-2022; DOI: 10.1183/23120541.00213-2022
Gene expression profile of epithelial–mesenchymal transition in tumours of patients with nonsmall cell lung cancer: the influence of COPD
Yingchen Xia, Jianhua Zha, Víctor Curull, Albert Sánchez-Font, Maria Guitart, Alberto Rodríguez-Fuster, Rafael Aguiló, Esther Barreiro

ERJ Open Research Jul 2022, 8 (3) 00105-2022; DOI: 10.1183/23120541.00105-2022
A genome-wide association study of bronchodilator response in participants of European and African ancestry from six independent cohorts
Jessica D. Gereige, Hanfei Xu, Victor E. Ortega, Michael H. Cho, Ming Liu, Phuwanat Sakornsakolpat, Edwin K. Silverman, Terri H. Beaty, Bruce E. Miller, Per Bakke, Amund Gulsvik, Craig P. Hersh, Jarrett D. Morrow, International COPD Genetics Consortium, Elizabeth J. Ampleford, Gregory A. Hawkins, Eugene R. Bleecker, Deborah A. Meyers, Stephen P. Peters, Juan C. Celedón, Kelan Tantisira, Jiang Li, Josée Dupuis, George T. O'Connor

ERJ Open Research Apr 2022, 8 (2) 00484-2021; DOI: 10.1183/23120541.00484-2021
COL18A1 genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study
Catherine E. Simpson, Megan Griffiths, Jun Yang, Melanie K. Nies, Dhananjay Vaidya, Stephanie Brandal, Lisa J. Martin, Michael W. Pauciulo, Katie A. Lutz, Anna W. Coleman, Eric D. Austin, D. Dunbar Ivy, William C. Nichols, Allen D. Everett, Paul M. Hassoun, Rachel L. Damico

ERJ Open Research Apr 2022, 8 (2) 00725-2021; DOI: 10.1183/23120541.00725-2021
Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD
Linnea Jarenbäck, Sophia Frantz, Julie Weidner, Jaro Ankerst, Ulf Nihlén, Leif Bjermer, Per Wollmer, Ellen Tufvesson

ERJ Open Research Apr 2022, 8 (2) 00668-2021; DOI: 10.1183/23120541.00668-2021
Does DNA methylation mediate the association of age at puberty with forced vital capacity or forced expiratory volume in 1 s?
Liang Li, Hongmei Zhang, John W. Holloway, Susan Ewart, Caroline L. Relton, S. Hasan Arshad, Wilfried Karmaus

ERJ Open Research Jan 2022, 8 (1) 00476-2021; DOI: 10.1183/23120541.00476-2021
Human bronchial epithelial cells from patients with asthma have an altered gene expression profile
Sangita Bhaker, Michael A. Portelli, Kamini Rakkar, Dominick Shaw, Simon Johnson, Christopher Brightling, Ian Sayers

ERJ Open Research Jan 2022, 8 (1) 00625-2021; DOI: 10.1183/23120541.00625-2021
Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function
Xavier Farré, Roderic Espín, Alexandra Baiges, Eline Blommaert, Wonji Kim, Krinio Giannikou, Carmen Herranz, Antonio Román, Berta Sáez, Álvaro Casanova, Julio Ancochea, Claudia Valenzuela, Piedad Ussetti, Rosalía Laporta, José A. Rodríguez-Portal, Coline H.M. van Moorsel, Joanne J. van der Vis, Marian J.R. Quanjel, Mireia Tena-Garitaonaindia, Fermín Sánchez de Medina, Francesca Mateo, María Molina-Molina, Sungho Won, David J. Kwiatkowski, Rafael de Cid, Miquel Angel Pujana

ERJ Open Research Jan 2022, 8 (1) 00375-2021; DOI: 10.1183/23120541.00375-2021
NKX2.1 (TTF1) germline mutation associated with pulmonary fibrosis and lung cancer
Raphael Borie, Benoit Funalot, Ralph Epaud, Céline Delestrain, Aurélie Cazes, Valerie Gounant, Justine Frija, Marie-Pierre Debray, Gérard Zalcman, Bruno Crestani

ERJ Open Research Oct 2021, 7 (4) 00356-2021; DOI: 10.1183/23120541.00356-2021
Feasibility of comprehensive genotyping specimens from radial endobronchial ultrasonography and electromagnetic navigation bronchoscopy
Maxime Robin, Laurent Mhanna, Leonor Chaltiel, Gavin Plat, Valentin Héluain, Céline Basset, Julie Meilleroux, Thomas Filleron, Julien Mazières, Christophe Hermant, Nicolas Guibert

ERJ Open Research Jul 2021, 7 (3) 00942-2020; DOI: 10.1183/23120541.00942-2020

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