Navigation Links
Genetic irregularities linked to higher risk of COPD among smokers
Date:3/19/2009

DURHAM, N.C. 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."


'/>"/>

Contact: michelle.gailiun@duke.edu
michelle.gailiun@duke.edu
919-724-5343
Duke University Medical Center
Source:Eurekalert

Related biology news :

1. Researchers identify genetic markers for aggressive head and neck cancer
2. Symposium to look at genetic basis of exercise
3. Genetic abnormality may increase risk of blood disorders
4. Researchers take first look at the genetic dynamics of inbreeding depression
5. The genetics of fear: Study suggests specific genetic variations contribute to anxiety disorders
6. Cats eye diseases genetically linked to diseases in humans
7. Genetic study finds treasure trove of new lizards
8. New potential therapeutic target discovered for genetic disorder -- Barth syndrome
9. Autism Speaks funds $5 million to studies on genetic and environmental risk factors for autism
10. Study examining role of genetics and environment in type 1 diabetes
11. Predicting risk of stroke from ones genetic blueprint
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/3/2016)... Feb. 3, 2016 Vigilant Solutions announces today ... in Missouri solved two recent ... (LPR) data from Vigilant Solutions. Brian Wenberg ... which the victim was walking out of a convenience store and witnessed an ... to his vehicle, striking his vehicle and leaving the ...
(Date:2/2/2016)... 2016 This BCC Research report provides ... reviewing the recent advances in high throughput ‘omic ... field forward. Includes forecast through 2019. ... and opportunities that exist in the bioinformatic market. ... as well as IT and bioinformatics service providers. ...
(Date:2/2/2016)... , Feb. 2, 2016   Parabon NanoLabs ... the U.S. Army Research Office and the Defense ... and sensitivity of the company,s Snapshot Kinship ... Mission and, more generally, defense-related DNA forensics.  Although ... capabilities (predicting appearance and ancestry from DNA evidence), ...
Breaking Biology News(10 mins):
(Date:2/10/2016)... ... February 10, 2016 , ... LATHAM, NEW YORK... Marktech Optoelectronics will ... conference in San Francisco’s Moscone Center from February 16-18, 2016, and at the ... These latest InGaAs PIN diode standard packages feature a TO-46 metal can with active ...
(Date:2/10/2016)... MA (PRWEB) , ... February 10, 2016 , ... ... is now available on Microsoft Azure. On Azure, Arvados provides capabilities for managing ... saw clear demand for Microsoft Azure from major institutions collecting and analyzing genomic ...
(Date:2/10/2016)... Vancouver, BC (PRWEB) , ... February 09, 2016 ... ... and design services and current winner of the Highest Overall Customer Rating ... certification in all of its business units across the USA, Canada, Mexico and ...
(Date:2/9/2016)... ... February 08, 2016 , ... Date and time: March ... at the Pennsylvania Biotechnology Center of Bucks County, 3805 Old Easton Road, Doylestown, ... (TCMC) will hold an open house for participants to learn about a new ...
Breaking Biology Technology: