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Genetic Epidemiology of 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: NCT00005531
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : February 18, 2016
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)

Brief Summary:
To determine if hereditary susceptibility predisposes African Americans to sarcoidosis and to identify sarcoidosis susceptibility genes in African Americans.

Condition or disease
Lung Diseases Sarcoidosis

Detailed Description:


Sarcoidosis is a multisystem, granulomatous inflammatory disease of unknown etiology. Hereditary susceptibility to sarcoidosis is suggested by reports of familial clustering and a higher prevalence in certain ethnic groups, particularly African-Americans. Over four hundred kindreds been reported in the medical literature and these investigators have recently described 101 families and shown that African Americans have a higher prevalence rate of familial sarcoidosis than Caucasians (19 percent vs. 5 percent). The reasons why sarcoidosis clusters in families or the role of genetic factors in this disease are not known.


The study was carried out in African American families ascertained through 400 African American sarcoidosis patients evaluated at the Henry Ford Health System. They were tested for association of sarcoidosis with markers for candidate genes using the affected family-based control method and tested for possible environmental risk factors and genetic mechanisms of disease transmission by performing a segregation analysis in African American families.

A strong association of one or more of the candidate genes with sarcoidosis or an indication of major gene segregation for the disease, provided the basis for future linkage studies. Investigating the hereditary susceptibility of sarcoidosis was best done in African Americans, because of the greater severity and occurrence of disease in this population. Once the reasons for familial aggregation of sarcoidosis are determined, the etiology of this disease will be better understood and it should be possible to design new approaches to prevention and treatment.

The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) recor

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Study Type : Observational
Study Start Date : December 1996
Actual Study Completion Date : November 2000

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Sarcoidosis

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria

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): NCT00005531

Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
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OverallOfficial: Michael Iannuzzi Case Western Reserve University

Layout table for additonal information Identifier: NCT00005531    
Other Study ID Numbers: 5064
R01HL054306 ( U.S. NIH Grant/Contract )
First Posted: May 26, 2000    Key Record Dates
Last Update Posted: February 18, 2016
Last Verified: August 2004
Additional relevant MeSH terms:
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Lung Diseases
Respiratory Tract Diseases
Lymphoproliferative Disorders
Lymphatic Diseases