Advances in the genetics of sarcoidosis Journal Article
| Authors: | Smith, G.; Brownell, I.; Sanchez, M.; Prystowsky, S. |
| Article Title: | Advances in the genetics of sarcoidosis |
| Abstract: | Sarcoidosis is an uncommon disease of granulomatous inflammation. Genetic predisposition to sarcoidosis is indicated by observations of familial clustering, increased concordance in monozygotic twins over other siblings, and variations in susceptibility and disease presentation among different ethnic groups. Published studies on sarcoidosis have investigated a variety of genetic associations. These studies used techniques ranging from classic human lymphocyte antigen genotype correlations to genome-wide linkage scans. Results have both supported and refuted disease associations with a number of genes potentially involved in the pathogenesis of sarcoidosis. Here, we review representative studies concerning the genetics of sarcoidosis. While investigations to date have failed to identify a unifying genetic signature associated with sarcoidosis, numerous studies have identified genetic associations with disease subtypes or within specific populations. These studies suggest that genetic susceptibility to sarcoidosis is complex and polygenic in nature. Future studies will help clarify the genetics of sarcoidosis and allow for the development of diagnostic, prognostic and therapeutic technologies. © 2008 The Authors Journal compilation © 2008 Blackwell Munksgaard. |
| Keywords: | gene mutation; single nucleotide polymorphism; disease course; review; animals; genetic predisposition to disease; unindexed drug; prevalence; interleukin 4; interleukin 8; macrophage inflammatory protein 1beta; genetic association; genotype; immunoglobulin enhancer binding protein; genome analysis; toll like receptor 4; antigen presentation; cytokines; tumor necrosis factor alpha; gamma interferon; genetic susceptibility; hla dr antigen; transforming growth factor beta receptor; tumor necrosis factor alpha inhibitor; heat shock protein 70; high risk population; genetic risk; cytokine release; major histocompatibility complex; hla a antigen; hla b antigen; hla c antigen; genetic predisposition; vitamin d receptor; sarcoidosis; t lymphocyte activation; chemokine receptor ccr2; interleukin 15; monocyte chemotactic protein 1; genetic linkage; b7 antigen; granuloma; immunopathogenesis; caspase recruitment domain protein 15; genetic correlation; i kappa b; chemokine receptor ccr5; rantes; monocyte chemotactic protein 2; interleukin 16; macrophage inflammatory protein 1alpha; human leukocyte antigen; complement component c3b receptor; dipeptidyl carboxypeptidase; natural resistance associated macrophage protein 1; lung sarcoidosis |
| Journal Title: | Clinical Genetics |
| Volume: | 73 |
| Issue: | 5 |
| ISSN: | 0009-9163 |
| Publisher: | Wiley Blackwell |
| Date Published: | 2008-05-01 |
| Start Page: | 401 |
| End Page: | 412 |
| Language: | English |
| DOI: | 10.1111/j.1399-0004.2008.00970.x |
| PUBMED: | 18312452 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 14" - "Export Date: 17 November 2011" - "CODEN: CLGNA" - "Source: Scopus" |
