Creating a free account will enable you to subscribe to our daily and weekly email newsletters, as well as customize your reading experience to show only the categories most relevant to you.
Signing up only take a few minutes, so why not give it a try and see what you've been missing out on.
Several novel gene variants may help explain the response of patients with chronic obstructive pulmonary disease (COPD) to inhaled bronchodilators, according to a meta-analysis reported at the American Society of Human Genetics 2013 meeting in Boston.
The meta-analysis used statistical methods to combine results from four individual studies with a total of 5,789 Caucasian patients with moderate to severe COPD.
Over 6.3 million unique single nucleotide polymorphisms (SNPs) were identified in the genotypes of the patients with COPD, which is a progressive breathing disorder that limits airflow in the lungs. The genotypes of over 700 African Americans with COPD also were analyzed.
"Identifying single nucleotide polymorphisms associated with bronchodilator responsiveness may reveal genetic pathways associated with the pathogenesis of COPD and may identify novel treatment methods," said Megan Hardin, M.D., Instructor of Medicine at Harvard Medical School and researcher in the Channing Division of Network Medicine at Brigham and Women's Hospital, Boston.
Dr. Hardin, who presented the research, added that multiple genetic determinants likely influence bronchodilator responsiveness. Functional analysis of the SNPs will be conducted, she added.
"As we continue to analyze the data, we expect to identify other important SNPs," said Craig P. Hersh, M.D., who headed the study and is Assistant Professor, Harvard Medical School, and faculty member in the Channing Division of Network Medicine at Brigham and Women's Hospital.
All of the subjects studied had significant histories of smoking, with most (4,561), over 10 pack-years. All patients were genotyped, and their lung function was tested by spirometry before and after they used the bronchodilator medication albuterol, which relaxes muscles in the airways and increases airflow to the lungs. Spirometry measures the volume and flow of air that is exhaled.
Each patient's bronchodilator responsiveness (BDR) was determined by three measures: absolute change in the volume of air exhaled during a forced breath in one second (FEV1); change as a percentage of predicted FEV1; and change as percentage of baseline FEV1.
In the presentation, Dr. Hardin reported the top SNPs that thus far have been associated with each BDR outcome, but emphasized that additional analysis may reveal other SNPs with equally or greater influence on COPD patients' response.
SNPs in HS6ST3 were associated with the baseline measure while SNPs in XKR4 were associated with baseline and predicted measures. SNPs in the CUBN were associated with absolute and predicted measures. Among African American subjects, SNPs in CDH13 were significantly associated with the absolute measure.
The research included the following cohorts: ECLIPSE (1,764 patients) and COPDGene (2,797 patients), all of whom had over 10 pack-years of cigarette smoking; NETT (364 patients with over five pack-years smoking), and GenKOLs (864 patients with over 2.5 pack-years of smoking).
The ASHG 2013 abstract: "A genome-wide meta-analysis of the response to inhaled bronchodilators among subjects with chronic obstructive pulmonary disease".
Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our COPD category page for the latest news on this subject.
Please use one of the following formats to cite this article in your essay, paper or report:
American Society of Human Genetics. "COPD patients' response to inhaled bronchodilators may be influenced by DNA variants." Medical News Today. MediLexicon, Intl., 29 Oct. 2013. Web.
9 Dec. 2013. <http://www.medicalnewstoday.com/releases/267957>
American Society of Human Genetics. (2013, October 29). "COPD patients' response to inhaled bronchodilators may be influenced by DNA variants." Medical News Today. Retrieved from
Please note: If no author information is provided, the source is cited instead.
If you write about specific medications, operations, or procedures please do not name healthcare professionals by name.
For any corrections of factual information, or to contact the our editorial team, please use our feedback form. Please send any medical news or health news press releases to:
Note: Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a health care professional. For more information, please read our terms and conditions.
This page was printed from: http://www.medicalnewstoday.com/releases/267957.php
Visit www.medicalnewstoday.com for medical news and health news headlines posted throughout the day, every day.
© 2004-2013 All rights reserved. MNT (logo) is the registered trade mark of MediLexicon International Limited.