Genetic Control of Susceptibility in Clinical and Experimental Uveitis

Pennesi, Giuseppina; Caspi, Rachel R

doi:10.1080/08830180212059

Cited by 30 publications

(21 citation statements)

References 79 publications

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“…Although it is unclear whether these immune responses represent the etiological cause or an epiphenomenon of autoimmunization to the products of tissue breakdown (especially in diseases where the initial trigger may be microbial; see Table 1), they are believed to fuel progression of the disease. Diseases in this group tend to have strong MHC associations (6), which is believed to indicate an autoimmune etiology, because MHC molecules select and present antigens for recognition by T cells.…”

Section: Introductionmentioning

confidence: 99%

A look at autoimmunity and inflammation in the eye

2010

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Autoimmune and inflammatory uveitis are a group of potentially blinding intraocular inflammatory diseases that arise without a known infectious trigger and are often associated with immunological responses to unique retinal proteins. In the United States, about 10% of the cases of severe visual handicap are attributed to this group of disorders. As I discuss here, experimental models of ocular autoimmunity targeting retinal proteins have brought about a better understanding of the basic immunological mechanisms involved in the pathogenesis of uveitis and are serving as templates for the development of novel therapies.

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Section: Introductionmentioning

confidence: 99%

A look at autoimmunity and inflammation in the eye

2010

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“…autoimmune), drug-induced, or trauma-related. In all cases, uveitis is believed to be immune-mediated and results from aberrant control of the immune system [9][10][11][12]. Consistent with the autoimmune or autoinflammatory basis for uveitis, it is one of the most clinically important manifestations in a number of systemic immunological disorders including ankylosing spondylitis, Behçet's disease, sarcoidosis, and inflammatory bowel disease [5].…”

Section: Short Communicationmentioning

confidence: 99%

Molecular Signaling and Ocular Inflammation: An Update on the NOD-Like Receptors (NLRs)

Lee¹,

Rosenzweig

2014

Clin Microbiol

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“…The inflammatory form of uveitis can occur either as an isolated disease, or as part of a systemic inflammatory syndrome such as Behcet's disease, Vogt-KoyanagiHarada syndrome, juvenile idiopathic arthritis, multiple sclerosis, spondyloarthropathies, and inflammatory bowel disease. Studies in humans and in animal models suggest that the disease is regulated by endogenous immune mechanisms (2) and is influenced by environmental and genetic factors (3,4). Most forms of uveitis occur within families but do not follow a classic Mendelian pattern of inheritance.…”

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“…In addition to the MHC class I and class II genes, genetic associations have also been reported for several non-MHC genes like TNF-␣ (17,18), MCP-1/CCL2 promoter region (19), CCL2, CCL5 (20), CCR5 (21), the IL-1 gene cluster (22), ICAM-1 (23), eNOS (24), and CyP4501A1 (25). A detailed review of the genetic involvement in uveitis had been provided elsewhere (3,4,26).…”

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Common Genetic Determinants of Uveitis Shared with Other Autoimmune Disorders

Mattapallil¹,

Şahin²,

Silver³

et al. 2008

The Journal of Immunology

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*Uveitis is a complex multifactorial autoimmune disease of the eye characterized by inflammation of the uvea and retina, degeneration of the retina, and blindness in genetically predisposed patients. Using the rat model of experimental autoimmune uveitis (EAU), we previously identified three quantitative trait loci (QTL) associated with EAU on rat chromosomes 4, 12, and 10 (Eau1, Eau2, and Eau3). The primary goal of the current study is to delineate additional non-MHC chromosomal regions that control susceptibility to EAU, and to identify any QTLs that overlap with the QTLs of other autoimmune diseases. Using a set of informative microsatellite markers and F 2 generations of resistant and susceptible MHC class II-matched rat strains (F344 and LEW), we have identified several new significant or suggestive QTLs on rat chromosomes 2, 3, 7, 10, and 19 that control susceptibility to EAU. A protective allele was identified in the susceptible LEW strain in the Eau5 locus at D7Wox18, and epistatic interactions between QTLs were found to influence the severity of disease. The newly identified regions (Eau4 through Eau9) colocalize with the genetic determinants of other autoimmune disease models, and to disease-regulating syntenic regions identified in autoimmune patients on human chromosomes 4q21-31, 5q31-33, 16q22-24, 17p11-q12, 20q11-13, and 22q12-13. Our results suggest that uveitis shares some of the pathogenic mechanisms associated with other autoimmune diseases, and lends support to the "common gene, common pathway" hypothesis for autoimmune disorders.

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Genetic Control of Susceptibility in Clinical and Experimental Uveitis

Cited by 30 publications

References 79 publications

A look at autoimmunity and inflammation in the eye

A look at autoimmunity and inflammation in the eye

Molecular Signaling and Ocular Inflammation: An Update on the NOD-Like Receptors (NLRs)

Common Genetic Determinants of Uveitis Shared with Other Autoimmune Disorders

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