Semin Respir Crit Care Med 2007; 28(1): 015-021
DOI: 10.1055/s-2007-970330
Copyright © 2007 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Genetics of Sarcoidosis

Michael C. Iannuzzi1
  • 1Division of Pulmonary, Critical Care, and Sleep Medicine, The Mount Sinai School of Medicine, New York, New York
Further Information

Publication History

Publication Date:
28 February 2007 (online)

ABSTRACT

Sarcoidosis likely results from an interplay of environmental and genetic factors. Despite a recent large multicenter study, A Case-Control Etiologic Study of Sarcoidosis (ACCESS), no single causative environmental agent has been identified. Family clustering and differences in racial incidence of sarcoidosis support an inherited susceptibility to sarcoidosis. Siblings of patients with sarcoidosis have about a fivefold increased risk of developing sarcoidosis. Certain human leukocyte antigen (HLA) alleles have been consistently associated with sarcoidosis susceptibility. Furthermore, HLA-DRB1*0301/DQB1*0201 has been associated with good prognosis in Löfgren's syndrome. Many candidate genes studied based on their potential function in immunopathogenesis have been evaluated in case-control studies, but few have been consistently associated with sarcoidosis across populations. Two genome scans have been reported in sarcoidosis. One in African Americans reporting linkage to chromosome 5 and the other in German families reporting linkage to chromosome 6. Follow-up studies on chromosome 6 identified the BTNL2 gene, a B7 family costimulatory molecule to be associated with sarcoidosis. Advances in genotyping and statistical analysis are helping to elucidate the genetics of sarcoidosis.

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Michael C IannuzziM.D. 

Division of Pulmonary, Critical Care, and Sleep Medicine, The Mount Sinai School of Medicine

1 Gustave Levy Pl., Box 1232, New York, NY 10029

Email: michael.iannuzzi@mssm.edu