Navigation Links
Genetic variants associated with bronchodilator responsiveness
Date:10/25/2013

Boston, MA A new study from Brigham and Women's Hospital (BWH) reveals several new gene variants that are associated with how people living with chronic obstructive pulmonary disease (COPD) respond to inhaled bronchodilators. COPD is a progressive breathing disorder that limits airflow in the lungs. Bronchodilators are medicines used to alleviate respiratory disorder symptoms.

The abstract for this meta-analysis study will be presented at the American Society of Human Genetics 2013 meeting, Oct. 22 to 26 in Boston.

One of the research goals was to identify single nucleotide polymorphisms (SNPs) associated with bronchodilator responsiveness (BDR).

"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, MD, BWH Channing Division of Network Medicine, lead study author.

The researchers used statistical methods to combine results from 5,789 Caucasian patients with moderate to severe COPD from four individual studies. The genotypes of over 700 African Americans with COPD were also analyzed.

Most (4,561) of the patients in the four cohorts studied had over 10 pack-years of smoking. The group whose members had greater than 5 pack-years of smoking totaled 364, and the cohort with greater than two and one-half years totaled 864.

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 air flow to the lungs. Spirometry measures the volume and flow of air that is exhaled.

The researchers investigated over 6.3 million unique SNPs from the patients' genotypes. They discovered four novel variants that rarely occur in the general population.

According to Hardin, there may be multiple genetic determinants that likely influence bronchodilator responsiveness. The researchers caution that more extensive functional analysis of the SNPs will be required.

"As we continue to analyze the data, we expect to identify other important SNPs," said Craig P. Hersh, MD, BWH Channing Division of Network Medicine, senior study author.

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) (BDRABS); change as percentage of predicted FEV1 (BDRPRED); and change as percentage of baseline FEV1 (BDRBASE).

The researchers reported that the top SNPs 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.

The meta-analysis revealed the top SNPs for each BDR outcome:

SNPs in the:

  • HS6ST3 gene were associated with BDRBASE
  • XKR4 gene were associated with BDRPRED and BDRBASE
  • CUBN gene were associated with BDRABS and BDRPRED

Among African American participants, SNPs in the CDH13 gene were significantly associated with BDRABS.

The cohorts included in the meta-analysis were: 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).


'/>"/>

Contact: Marjorie Montemayor-Quellenberg
mmontemayor-quellenberg@partners.org
617-534-2208
Brigham and Women's Hospital
Source:Eurekalert

Related biology news :

1. Nearby chimpanzee populations show much greater genetic diversity than distant human populations
2. Will a genetic mutation cause trouble? Ask Spliceman
3. UC Santa Barbara researchers discover genetic link between visual pathways of hydras and humans
4. Perception and preference may have genetic link to obesity
5. A foot in the door to genetic information
6. Genetic survey of endangered Antarctic blue whales shows surprising diversity
7. Epigenetic signatures direct the repair potential of reprogrammed cells
8. Epigenetics and epidemiology -- hip, hype and science
9. Genetic variation in East Asians found to explain resistance to cancer drugs
10. First complete full genetic map of promising energy crop
11. Genetic research develops tools for studying diseases, improving regenerative treatment
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/25/2016)... , Jan. 25, 2016  Glencoe Software, the world-leading ... and publication industries, will provide the data management solution ... (NPSC). ... Phenotypic analysis measures the ... organisms, allowing comparisons between states such as health and ...
(Date:1/22/2016)... http://www.researchandmarkets.com/research/p74whf/global_biometrics ) ... "Global Biometrics Market in Retail Sector 2016-2020" ... --> http://www.researchandmarkets.com/research/p74whf/global_biometrics ) has announced the ... in Retail Sector 2016-2020" report to ... and Markets ( http://www.researchandmarkets.com/research/p74whf/global_biometrics ) has announced ...
(Date:1/20/2016)... LONDON , Jan. 20, 2016 A ... positioned to directly benefit from the explosion in genomics ... from Howe Sound Research. A range of dynamic trends ... ...... - personalized medicine - pharmacogenomics - pathogen ... economies with large markets - greater understanding of the ...
Breaking Biology News(10 mins):
(Date:2/10/2016)... , Feb. 10, 2016 NX Prenatal ... its proprietary NeXosome® technology for early warning of ... its most recent study by Dr. Thomas ... the Society for Maternal Fetal Medicine,s (SMFM) annual meeting ... 1-6 th , 2016.  The presentation reported initial ...
(Date:2/10/2016)... 2016  Allergan plc (NYSE: AGN ) a ... Saunders , Allergan,s CEO and President, will be featured ... at the RBC Capital Markets Healthcare Conference on Tuesday, ... New York Palace Hotel in New York, ... and can be accessed on Allergan,s Investor Relations web ...
(Date:2/10/2016)... ... ... LATHAM, NEW YORK... Marktech Optoelectronics will feature their new high-speed InGaAs ... Moscone Center from February 16-18, 2016, and at the healthcare-focused BiOS Expo on February ... standard packages feature a TO-46 metal can with active areas of 1.0mm and 1.5mm ...
(Date:2/10/2016)... ... 10, 2016 , ... Global Stem Cells Group, ... Global Stem Cells Network (GSCN) and its affiliate Global Medical Training Network ... adipose and bone marrow therapies. , Through the new collaboration, Global Stem ...
Breaking Biology Technology: