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Genetic Epidemiology of Sarcoidosis

This study has been completed.
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI) Identifier:
First received: May 25, 2000
Last updated: February 17, 2016
Last verified: August 2004
To determine if hereditary susceptibility predisposes African Americans to sarcoidosis and to identify sarcoidosis susceptibility genes in African Americans.

Lung Diseases Sarcoidosis

Study Type: Observational

Resource links provided by NLM:

Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Study Start Date: December 1996
Study Completion Date: November 2000
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


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria
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Please refer to this study by its identifier: NCT00005531

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

Publications: Identifier: NCT00005531     History of Changes
Other Study ID Numbers: 5064
R01HL054306 ( US NIH Grant/Contract Award Number )
Study First Received: May 25, 2000
Last Updated: February 17, 2016

Additional relevant MeSH terms:
Lung Diseases
Respiratory Tract Diseases
Lymphoproliferative Disorders
Lymphatic Diseases processed this record on June 23, 2017