Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genetic irregularities linked to higher risk of COPD among smokers

23.03.2009
Scientists at Duke University Medical Center have discovered two genetic markers that appear to put some smokers at significantly higher risk of developing chronic obstructive pulmonary disease (COPD).

The findings come from the first-ever genome-wide association study of COPD and suggest that those who carry the markers may be able to reduce their risk if they quit smoking before the first symptoms of COPD occur.

"The public health message would probably be 'quit before it's too late,'" says David Goldstein, Ph.D., director of the Institute for Genome Sciences Center for Human Genome Variation at Duke and the senior author of the study appearing in PLoS Genetics.

Chronic obstructive pulmonary disease is one of the leading causes of death worldwide. While smoking is the biggest risk factor, there is considerable variation among those who develop the disease. Genetics plays a role, but until now, there has only been one biological marker proven to be associated with COPD – a deficit of the protein A1AT, which has also been linked to the development of lung cancer.

"But we know that A1AT deficiency appears in only 1-2 percent of people with COPD, so we were pretty sure that there had to be other genetic variants at work, as well," says Goldstein.

To discover if that hunch might prove true, Goldstein led an international team of investigators in examining the genomes of 823 people with COPD and 810 smokers without COPD in Norway. They were looking for the presence of the 100 top genetic variations already documented in individuals with COPD enrolled in the family-based International COPD Genetics Network. They then took the most frequently occurring alterations from that study and evaluated them in three additional, independent groups: patients in the U.S. National Emphysema Treatment Trial, individuals enrolled in the Boston Early-Onset COPD study and a control group from the Normative Aging Study.

The genome-wide association study revealed several genetic aberrations that might be linked to COPD. But after a series of statistical analyses, only two single letter changes in DNA - (called single nucleotide polymorphisms, SNPs, or "snips") emerged as significant. Both were located near a nicotine receptor on chromosome 15 that has already been associated with lung cancer and other respiratory disorders. The SNPs also appeared with significant frequency among members of the international COPD genetics and emphysema groups.

"We believe that smokers who have these two SNPs face a nearly two-fold increase in risk of developing COPD, when compared with those who do not have these gene variants," says Goldstein. "We also believe that these two alterations directly affect how the lungs function – that they may actually mediate the risk of developing COPD."

The authors also ran tests among those who developed COPD and those who did not to find out if there was any relationship between the variants and how much people smoked. They didn't find any association, reinforcing the notion that these variants influence risk independent of smoking behavior.

The findings represent the discovery of the first major locus contributing to COPD in the general population. While Goldstein says the discovery may well open new therapeutic windows, it may also prompt clinicians to take another look at how they assess health risk among smokers.

"While it is clear that choosing to smoke is one of the worst health decisions a person can make, we now know that choice is even worse for some people than others," Goldstein said. "Our study also suggests that familiar measures of risk such as packs per day or smoking years, while informative, tell only a part of the story. The rest of the story is all about genetics, and it is still being written."

Michelle Gailiun | EurekAlert!
Further information:
http://www.duke.edu

More articles from Life Sciences:

nachricht New risk factors for anxiety disorders
24.02.2017 | Julius-Maximilians-Universität Würzburg

nachricht Stingless bees have their nests protected by soldiers
24.02.2017 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Stingless bees have their nests protected by soldiers

24.02.2017 | Life Sciences

New risk factors for anxiety disorders

24.02.2017 | Life Sciences

MWC 2017: 5G Capital Berlin

24.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>