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Gene Variant Linked with
Development of COPD in Men
Newswise, May — ATS 2011, DENVER –
Researchers have linked a variant in the
vitamin D receptor gene (VDR) with the onset
of chronic obstructive pulmonary disease (COPD)
in Caucasian men. The study population
consisted of participants in the Veterans
Administration Normative Aging Study, a
multidisciplinary study of aging that began
The VDR study was presented at the ATS 2011
“Our results show that this gene variant is
associated with development of COPD in
Caucasian men, and provides support for the
notion that vitamin D metabolic pathways may
affect COPD risk,” said Audrey Poon, PhD,
postdoctoral fellow at Meakins-Christie
Laboratories, McGill University Health
Centre in Montreal.
The study was conducted while Dr. Poon was
doing her first postdoctoral fellowship at
Channing Laboratory, Brigham and Women’s
Hospital in Boston.
Although cigarette smoking is considered to
be the main risk factor for chronic
obstructive diseases such as emphysema and
chronic bronchitis, only a proportion of
smokers develop clinical disease.
Researchers believe genetic factors also
contribute to the risk of developing COPD.
The vitamin D metabolic pathway has been
implicated in the development of COPD.
“Several variants of genes that control
vitamin D function and metabolism have been
associated with COPD and other lung
diseases, but results have been
conflicting,” Dr. Poon said.
“In this study we investigated variants in
two vitamin D pathway genes and their
association with development of COPD.”
Using DNA data from the VA study, the
researchers determined the genotypes of 24
variants in the vitamin D receptor gene and
12 in the vitamin D binding protein gene in
a total of 1,215 men.
All subjects were free of known chronic
conditions, including coronary heart
disease, hypertension, chronic lung disease,
asthma and diabetes at the time of
The VA study also offered data from repeated
lung function measures conducted over 40
years, as well as smoking information for
The researchers used the lung function data
to measure the time it took for participants
to develop COPD, evaluating all 36 gene
variants. They found variant rs3847987 of
the VDR gene was found to influence the time
to onset of COPD in the study population.
“We had the expectation that we would find
an association of variants in one of these
genes with the development of COPD,” Dr.
Poon said. “However, we did not expect that
this particular variant in the VDR gene
would be associated, since it has not been
reported to be associated with COPD before.”
Future studies will need to clearly
determine the function of the gene variant,
“More questions need to be answered before
we can take any of these findings to
clinical practice,” Dr. Poon said.
“For instance, we do not know what effect,
if any, vitamin D levels would have on the
risk of developing COPD and whether
circulating vitamin D levels interact with
“Furthermore, we only selected two genes in
the pathway, and there are numerous genes
that are involved,” she added.
“If these findings are validated, then
investigating the effect of this particular
variant in the function of the vitamin D
receptor will be important.”