Featured Research

from universities, journals, and other organizations

Potential genetic links to lung disease risk uncovered

Date:
December 15, 2009
Source:
NIH/National Institute of Environmental Health Sciences
Summary:
A new study involving data from more than 20,000 individuals has uncovered several DNA sequences linked to impaired pulmonary function. The research, an analysis that combined the results of several smaller studies, provides insight into the mechanisms involved in reaching full lung capacity. The findings may ultimately lead to better understanding of lung function and diseases like asthma and chronic obstructive pulmonary disease, the fourth leading cause of death in the United States.

A new study involving data from more than 20,000 individuals has uncovered several DNA sequences linked to impaired pulmonary function. The research, an analysis that combined the results of several smaller studies, provides insight into the mechanisms involved in reaching full lung capacity. The findings may ultimately lead to better understanding of lung function and diseases like asthma and chronic obstructive pulmonary disease (COPD), the fourth leading cause of death in the United States.

"We have known for a while that genetic factors put some people at risk for lower lung function -- a factor in COPD and a risk for early mortality. But, we did not know which specific genetic regions were involved," said Stephanie London, M.D., Dr.P.H., senior investigator at the National Institute of Environmental Health Sciences (NIEHS), part of National Institutes of Health (NIH), and a senior author on the paper. "These findings point to specific gene regions."

Impaired lung function is a hallmark of COPD and other lung diseases. But it is also linked to mortality from a wide range of other diseases, including cardiovascular disease and cancer. So knowing some of the genes involved is a first step toward understanding the relationship between lung function and mortality, as well as developing new interventions to manage lung diseases.

"Leveraging our investment in collecting these samples has led to new findings and will help focus future research efforts," said James P. Kiley, Ph.D., director of the Division of Lung Diseases at the National Heart, Lung, and Blood Institute (NHLBI).

To conduct the analysis that is published online in the Dec. 13, 2009 issue of Nature Genetics, the researchers used data from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. CHARGE is an ongoing study -- a group of groups -- that combines genome-wide association study (GWAS) results from several population-based studies. Pooling data from many studies gives much greater power to find the specific genes involved than looking at any one study alone.

The GWAS approach involves measuring hundreds of thousands of genetic variants, in thousands of individuals, in hopes of finding novel genetic variations associated with specific diseases or conditions.

This meta-analysis provided data from more than 20,000 participants. The individual studies included three US-based population studies supported by the NHLBI -- the Artherosclerosis Risk in Communities, the Cardiovascular Health Study, and the Framingham Heart Study -- and the Rotterdam Study in the Netherlands.

The researchers focused on finding genetic commonalities in DNA that lead to some people having lower lung function than others of the same age, gender, race, size and smoking history.

One way researchers determine airflow obstruction is by using a machine called a spirometer to measure how much air a person breathes in and out, as well as how fast it is blown out, or expired. Spirometry is an important tool used to diagnose asthma, pulmonary fibrosis, cystic fibrosis, COPD, as well as the impact of environmental exposure on lung health. In disease, the ratio between forced expiratory volume (FEV1) and forced vital capacity (FVC) -- an indicator of airflow obstruction -- is abnormally low.

"This is a beautiful example of how modern genomic approaches can unearth valuable new insights from previous research," said NIEHS Director Linda Birnbaum, Ph.D. "It sets us on a course for learning much more about how lung diseases develop and how environmental triggers like smoking and air pollution work in combination with genes."


Story Source:

The above story is based on materials provided by NIH/National Institute of Environmental Health Sciences. Note: Materials may be edited for content and length.


Journal Reference:

  1. Hancock DB, Eijgelsheim M, Wilk JB, Gharib SA, Loehr LR, Marciante KD, Franceschini N, van Durme YMTA, Chen T, Barr RG, Schabath MB, Couper DJ, Brusselle GG, Psaty BM, van Duijn CM, Rotter JI, Uitterlinden AG, Hofman A, Punjabi NM, Rivadeneira F, Morrison AC, Enright PL, North KE, Heckbert SR, Lumley T, Stricker BHC, O'Connor GT, London SJ. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nature Genetics, 2009; DOI: 10.1038/ng.500

Cite This Page:

NIH/National Institute of Environmental Health Sciences. "Potential genetic links to lung disease risk uncovered." ScienceDaily. ScienceDaily, 15 December 2009. <www.sciencedaily.com/releases/2009/12/091214101840.htm>.
NIH/National Institute of Environmental Health Sciences. (2009, December 15). Potential genetic links to lung disease risk uncovered. ScienceDaily. Retrieved September 23, 2014 from www.sciencedaily.com/releases/2009/12/091214101840.htm
NIH/National Institute of Environmental Health Sciences. "Potential genetic links to lung disease risk uncovered." ScienceDaily. www.sciencedaily.com/releases/2009/12/091214101840.htm (accessed September 23, 2014).

Share This



More Health & Medicine News

Tuesday, September 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Liberia Pleads for Help to Fight Ebola

Liberia Pleads for Help to Fight Ebola

AP (Sep. 22, 2014) Liberia's finance minister is urging the international community to quickly follow through on pledges of cash to battle Ebola. Bodies are piling up in the capital Monrovia as the nation awaits more help. (Sept. 22) Video provided by AP
Powered by NewsLook.com
Ebola Doctor Says Border Controls Critical

Ebola Doctor Says Border Controls Critical

AP (Sep. 22, 2014) A Florida doctor who helped fight the expanding Ebola outbreak in West Africa says the disease can be stopped, but only if nations quickly step up their response and make border control a priority. (Sept. 22) Video provided by AP
Powered by NewsLook.com
Global Ebola Aid Increasing But Critics Say It's Late

Global Ebola Aid Increasing But Critics Say It's Late

Newsy (Sep. 21, 2014) More than 100 tons of medical supplies were sent to West Africa on Saturday, but aid workers say the global response is still sluggish. Video provided by Newsy
Powered by NewsLook.com
Sierra Leone in Lockdown to Control Ebola

Sierra Leone in Lockdown to Control Ebola

AP (Sep. 21, 2014) Sierra Leone residents remained in lockdown on Saturday as part of a massive effort to confine millions of people to their homes in a bid to stem the biggest Ebola outbreak in history. (Sept. 20) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins