MEDICAL: CONDITIONS: ASTHMA :
MEDICAL: GENETICS :
NIH-Funded Study Connects Gene Variant to Response to Asthma Drugs
Date: Mon, 26 Sep 2011 08:57:44 -0400
From: "NIH OLIB (NIH/OD)" <[log in to unmask]>
To: [log in to unmask]
Subject: NIH-Funded Study Connects Gene Variant to Response
to Asthma Drugs
U.S. Department of Health and Human Services
NATIONAL INSTITUTES OF HEALTH NIH News
National Heart, Lung, and Blood Institute (NHLBI)
Embargoed for Release: Monday, September 26, 2011, 7 a.m. EDT
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NIH-FUNDED STUDY CONNECTS GENE VARIANT TO RESPONSE TO ASTHMA DRUGS
A genetic variant may explain why some people with asthma do not respond
well to inhaled corticosteroids, the most widely prescribed medicine for
long-term asthma control. Researchers found that asthma patients who have
two copies of a specific gene variant responded only one-third as well to
steroid inhalers as those with two copies of the regular gene.
This genome-wide association study, funded by the National Heart, Lung,
and Blood Institute (NHLBI), part of the National Institutes of Health,
analyzed data from over 1,000 people enrolled in five separate clinical
trials that studied different steroid treatments for asthma.
The study was also funded by the National Human Genome Research Institute
and the NIH Pharmacogenomics Research Network. The results will appear in
the Sept. 26 online edition of the New England Journal of Medicine.
"This finding helps to explain the genetic basis for the long-standing
observation that some people do not respond well to what is a common
asthma treatment," said Susan Shurin, M.D., acting director of the NHLBI.
"The study illustrates the importance of research examining the
relationship between genetic makeup and response to therapy for asthma,
and underscores the need for personalized treatment for those who have
Asthma is a complex inflammatory disease that affects over 22 million
people in the United States and roughly 300 million people worldwide. Many
factors can influence how severely the disease affects people and how well
they respond to treatments. Poor response to inhaled corticosteroids (ICS)
often runs in families, suggesting that genetics plays a role in how
people respond to asthma treatments.
The study first conducted a genome-wide scan of the DNA of children
enrolled in the Childhood Asthma Management Program and of their parents.
The genomic scan uncovered a variant in a gene called GLCCI1 that appeared
to be associated with poor ICS response. Study researchers then verified
this association in 935 additional people with asthma, both children and
adults, enrolled in four independent ICS studies. Most of the participants
in these studies were white; the results may not be applicable to persons
of other ethnicities.
In this study, people carrying two copies of the GLCCI1 variant were more
than twice as likely to respond poorly to ICS treatment as participants
with two copies of the regular GLCCI1 gene. Those who responded poorly had
an average of one-third the level of lung improvement following inhaler
treatment as did people with two regular copies of the gene.
About 1 in 6 study participants had two copies of the GLCCI1 variant,
which is thought to work in conjunction with other genetic and
environmental factors to affect response to ICS.
More studies will be needed to understand how GLCCI1 operates in the lungs
and to explore whether it contributes to response in patients of other
To schedule an interview with an NHLBI spokesperson, contact the NHLBI
Office of Communications at
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The National Heart, Lung, and Blood Institute (NHLBI) is a component of
the National Institutes of Health. NHLBI plans, conducts, and supports
research related to the causes, prevention, diagnosis, and treatment of
heart, blood vessel, lung, and blood diseases; and sleep disorders. The
Institute also administers national health education campaigns on women
and heart disease, healthy weight for children, and other topics. NHLBI
press releases and other materials are available online at:
About the National Institutes of Health (NIH): NIH, the nation's medical
research agency, includes 27 Institutes and Centers and is a component of
the U.S. Department of Health and Human Services. NIH is the primary
federal agency conducting and supporting basic, clinical, and
translational medical research, and is investigating the causes,
treatments, and cures for both common and rare diseases. For more
information about NIH and its programs, visit
-- What is asthma?
-- National Asthma Control Initiative website
-- Childhood Asthma Management Program (CAMP)
-- The NIH Pharmacogenomics Research Network
This NIH News Release is available online at:
(215) 204 - 4584
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