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Identifying Shared Genetic Susceptibility Regions in Chronic Beryllium Disease and Sarcoidosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00560989
Recruitment Status : Completed
First Posted : November 20, 2007
Last Update Posted : September 26, 2014
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
National Jewish Health

Brief Summary:
Granulomatous lung diseases are diseases in which inflamed clusters of white cells, known as granulomas, form in lung tissue. Chronic beryllium disease (CBD) and sarcoidosis are two granulomatous diseases that share similar clinical symptoms, physiological changes in the lungs, and immune responses to the disease. Genetic variations may make some people more susceptible to developing CBD or sarcoidosis. This study will identify common genetic regions associated with increased risk of developing the granulomatous diseases CBD and sarcoidosis.

Condition or disease
Sarcoidosis Berylliosis

Detailed Description:

CBD and sarcoidosis are granulomatous lung diseases that are caused by an abnormal immune response. While CBD is known to develop from exposure to the industrial product beryllium, the cause of sarcoidosis remains undetermined. CBD occurs in 2 to 16% of people exposed to beryllium and varies in severity of symptoms. People with sarcoidosis often show very minor symptoms. However, certain variables have been associated with the more severe forms of disease. These variables include black race, onset over the age of 40, involvement of more than three affected organs, and presence of more serious lung disease. When serious symptoms of sarcoidosis occur, clinical and pathological appearances of CBD and sarcoidosis are often hard to distinguish. Symptoms common to both diseases include fever, chest pain, weight loss, night sweats, fatigue, and presence of granulomas on the lungs. The fact that the severity of both diseases varies greatly among those affected points to possible genetic involvement. The genetic basis being analyzed in this study begins with the similar immune responses in the development of both diseases, specifically involving human leukocyte antigen (HLA) gene products. The purpose of this study is to identify common genetic regions associated with increased risk of developing the granulomatous diseases CBD and sarcoidosis.

This study will utilize a novel technique, known as a genome-wide scan. The study will examine previously collected DNA samples from participants in a previous NIH study, A Case Control Etiologic Study of Sarcoidosis (ACCESS), and from participants with CBD recruited at the National Jewish Medical and Research Center. Using the genome scans, researchers will compare genetic regions of people with CBD versus people without CBD who have been exposed to beryllium. The same approach will be used to define genetic regions associated with sarcoidosis. Genome control methods will be used to account for population stratification in both the CBD and sarcoidosis populations. Researchers will compare data between diseased and healthy control groups and between CBD and sarcoidosis groups to identify shared genetic regions relevant to disease development. A second genome scan involving two larger populations of CBD and sarcoidosis cases and controls will be conducted to confirm the association of these regions with both diseases.

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Study Type : Observational
Actual Enrollment : 400 participants
Observational Model: Case-Control
Time Perspective: Retrospective
Official Title: Shared Genetic Susceptibility in CBD and Sarcoidosis
Study Start Date : March 2007
Actual Study Completion Date : March 2007

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Sarcoidosis

CBD cases
Beryllium-exposed, non-diseased control subjects
Sarcoidosis cases
Sarcoidosis control subjects

Primary Outcome Measures :
  1. Shared genetic regions associated with the risk of the granulomatous diseases CBD and sarcoidosis [ Time Frame: Measured at completion of genetic analysis ]

Secondary Outcome Measures :
  1. Genetic/chromosomal regions associated with CBD and sarcoidosis [ Time Frame: Measured at completion of genetic analysis ]

Biospecimen Retention:   Samples With DNA
DNA specimens

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
This study will use specimens from two well-established disease popultions: a CBD population previously recruited at the National Jewish Medical and Research Center and a sarcoidosis population derived from the previous NHLBI study, A Case-Control Etiologic Study of Sarcoidosis (ACCESS).

Inclusion Criteria:

  • Has previously participated in beryllium studies conducted by Dr. Lisa Maier
  • Agrees to allow the use of personal medical records and genetic material for future research by study officials

Exclusion Criteria:

  • Will not consent for use of DNA for research purposes or for storage
  • Any beryllium or sarcoidosis DNA specimens without an optical density of 260/280 nm, ratio between 1.8 and 2.0, or with an insufficient quantity of DNA for analysis purposes

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00560989

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United States, Colorado
National Jewish Medical and Research Center
Denver, Colorado, United States, 80206
Sponsors and Collaborators
National Jewish Health
National Heart, Lung, and Blood Institute (NHLBI)
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Principal Investigator: Lisa A. Maier, MD, MSPH National Jewish Health
Layout table for additonal information Identifier: NCT00560989    
Other Study ID Numbers: 1382
R21HL081766 ( U.S. NIH Grant/Contract )
R21HL081766-01A2 ( U.S. NIH Grant/Contract )
First Posted: November 20, 2007    Key Record Dates
Last Update Posted: September 26, 2014
Last Verified: September 2014
Keywords provided by National Jewish Health:
Chronic Beryllium Disease
Additional relevant MeSH terms:
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Genetic Predisposition to Disease
Lymphoproliferative Disorders
Lymphatic Diseases
Disease Susceptibility
Disease Attributes
Pathologic Processes
Lung Diseases, Interstitial
Lung Diseases
Respiratory Tract Diseases
Lung Injury
Occupational Diseases