Publication Spotlight

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Publication Spotlight

Publication Spotlight


The papers listed here were publication spotlights to highlight important scientific advancements published by members of the ATS Section of Genetics and Genomics. As these papers include major advancements in the field, this page will be used to archive each featured publication to allow easy access to this body of literature.

Author: Ann Chen Wu, MD, MPH, Nominating Committee Member  
Description: In this study, for the first time, we examined the real-world effectiveness of inhaled corticosteroids (ICS)  including the combination therapy consisting of ICS and long-acting beta agonists (LABAs), considering patterns of use over a 15-year time period. We used data from the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort which comprises longitudinal electronic health record data of over 100,000 people. We assessed longitudinal asthma-related events, such as ambulatory office visits, hospitalizations, emergency department (ED) visits, and fills of ICS and ICS-LABA combination; and defined Asthma exacerbations as an asthma-related ED visit, hospitalization, or oral corticosteroid (OCS) burst. We found that in this real world setting ICS-LABA therapy reduced all types of exacerbations by a factor of 1.76 (95% CI (1.06, 2.93), p = 0.03) per day and, specifically, bursts per day by a factor of 1.91 (95% CI (1.04, 3.53), p = 0.037). We concluded that ICS-LABA therapy was significantly associated with fewer asthma-related exacerbations in a large population of individuals with asthma who were followed for 15 years.

Distinct Cancer-Promoting Stromal Gene Expression Depending on Lung Function

Author: Christine Wendt, MD

Description: Chronic obstructive pulmonary disease is an independent risk factor for lung cancer, but the underlying molecular mechanisms are unknown. The hypothesis of this study is that lung stromal cells activate pathological gene expression programs that support oncogenesis. This was explored by conducting a multiomics analysis of nonmalignant lung tissue to quantify the transcriptome, translatome, and proteome. The authors identified the activation of two distinct stromal gene expression programs that promote cancer initiation; and determined that which one was activated was dependent on lung function. In subjects with normal to mildly impaired lung function, the mammalian target of rapamycin (mTOR) pathway served as an upstream driver, whereas in subjects with severe airflow obstruction, pathways downstream of pathological extracellular matrix emerged. This work has important implications both for screening strategies and for personalized approaches to cancer treatment.

Author: Dr. Victor Ortega, Co-Chair, Section on Genetics and Genomics
Description: Ortega and colleagues comprehensively evaluated the effects of rare SERPINA1 variants on lung function and emphysema phenotypes in 1,693 non-Hispanic Whites, 385 African Americans, and 90 Hispanics with ≥20 pack-years smoking using deep DNA sequencing of the gene encoding α1-antitrypsin, SERPINA1. This integrative sequencing study is the first to perform deep gene sequencing in combination with α1-antitrypsin concentrations in multiple ethnic groups to detect the cumulative effects of PI Z, S, and additional, rare SERPINA1 variants combined and independently.