Genetics of Sarcoidosis

Manfred Schürmann

doi:10.1055/s-2003-39020

Seminars in Respiratory and Critical Care Medicine, Table of Contents

Semin Respir Crit Care Med 2003; 24(2): 213-222
DOI: 10.1055/s-2003-39020

Genetics of Sarcoidosis

Manfred Schürmann

Institute of Human Genetics, University Lübeck, Lübeck, Germany.

Abstract

ABSTRACT

Sarcoidosis is a systemic disorder of granulomatous inflammation that primarily affects the lung and lymph system, although all organs can be involved. Two principal presentations of the disorder can be defined; an acute form, often with short duration and complete restitution, and a more insidious course with multiorgan involvement and a higher risk of progressive organ damage. Sarcoidosis affects mainly young adults.

The etiology of sarcoidosis is unknown, and current concepts assume one or more environmental triggers that start in a host with an inherited susceptibility to a dysbalanced immune response. Candidate susceptibility genes include genes with a function in antigen recognition, T cell activation, T-helper 1/2 (TH1/TH2) cell balance, and granuloma formation.

A few genetic linkage analyses and numerous association studies with a focus on the region of the major histocompatibility complex genes have been performed, which have so far yielded no breakthrough. They have, rather, verified the assumption of a complex and possibly heterogeneous character of the genetics of sarcoidosis.

KEYWORDS

Sarcoidosis - disease susceptibility - immunogenetics - major histocompatibility complex

Full Text

References

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