BUSM researchers identify gene variant associated with chronic obstructive pulmonary disease

March 19, 2009

(Boston) - Researchers from Boston University School of Medicine (BUSM) have, for the first time, identified a gene variant on chromosome 4 that may be a potential risk factor for chronic obstructive pulmonary disease (COPD). These findings will be published in PLoS Genetics on March 20th.

COPD is the fourth leading cause of death in the United States and one of the most prevalent disabling diseases of adults. According to the researchers, cigarette smoking is the primary risk factor for impaired lung function, yet only 20 percent of smokers develop COPD. This observation, along with family studies of lung function and COPD, suggests that genetic factors influence susceptibility to cigarette smoke.

The researchers performed a genome-wide association study on 7,691 Framingham Heart Study participants to identify a relationship between common genetic variants and measures of lung function. The identified variants on chromosome 4 were then examined and confirmed in an independent set of 835 Family Heart Study participants.

"Several interesting genes are present in the region that we identified, including a gene (HHIP) interacting with a biological pathway involved in lung development, but it is not yet clear which gene in the region explains the association," said lead author Jemma Wilk, D.Sc., an assistant professor of neurology at BUSM.. "Our results identified a region of chromosome 4 that warrants further study to understand the genetic effects influencing lung function," she added.
-end-
The Framingham Heart Study, which has been administered by BUSM faculty in cooperation with National Heart, Lung and Blood Institute since 1971, was initiated in 1948 to identify factors contributing to cardiovascular disease, principally heart attack and stroke.

This research was conducted in part using data and resources from the Framingham Heart Study of the National Heart, Lung, and Blood Institute of the National Institutes of Health and Boston University School of Medicine.

Boston University

Related COPD Articles from Brightsurf:

Promising therapeutic approach against COPD
Chronic obstructive pulmonary disease (COPD) is one of the most common and deadliest diseases worldwide.

COPD underdiagnosed in older adults, but can be managed
''Recognizing and Treating COPD in Older Adults'' the latest issue of the What's Hot newsletter from The Gerontological Society of America, addresses what is known about the prevalence, incidence, and impact of chronic obstructive pulmonary disease (COPD) in older adults.

Undersized airways may explain why nonsmokers get COPD
A mismatch between airway and lung size may explain why some nonsmokers get COPD and some heavy smokers do not, according to a new study from Columbia University Irving Medical Center.

Is pulmonary rehab after hospitalization for COPD associated with better survival?
Claims data for nearly 200,000 Medicare patients were used to examine the association between starting pulmonary rehabilitation within 90 days of being hospitalized for chronic obstructive pulmonary disease (COPD) and survival after one year.

COPD and smoking associated with higher COVID-19 mortality
Current smokers and people with chronic obstructive pulmonary disease (COPD) have an increased risk of severe complications and higher mortality with COVID-19 infection, according to a new study published May 11, 2020 in the open-access journal PLOS ONE by Jaber Alqahtani of University College London, UK, and colleagues.

COPD as a lung stem cell disease
Two internationally renowned stem cell researchers at the University of Houston have found an abundance of abnormal stem cells in the lungs of patients who suffer from Chronic Obstructive Pulmonary Disease (COPD), a leading cause of death worldwide.

New hope for COPD patients possible with in-home device
In a new paper published Feb. 4 in JAMA, Mayo Clinic researchers describe the benefits of in-home noninvasive ventilation therapy, which includes a type referred to as bilevel positive airway pressure, or BiPAP -- for many patients with chronic obstructive pulmonary disease (COPD).

COPD appears to cause more severe symptoms in women
Women who develop COPD report smoking fewer cigarettes than men; and yet, women experience greater breathing impairments, are subjected to more acute exacerbations of symptoms and report lower quality of life than men with the disease, according to research presented at ATS 2019.

African-Americans with COPD appear less likely to use pulmonary rehab
African-American patients with chronic obstructive pulmonary disease, or COPD, are less likely to participate in pulmonary rehabilitation programs than white patients, even when there are programs nearby.

COPD and type 2 diabetes
COPD and type 2 diabetes are two highly prevalent global health conditions associated with high mortality and morbidity.

Read More: COPD News and COPD Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.