Graves Ophthalmopathy: A Review of Immunogenetics

Title: Graves Ophthalmopathy: A Review of Immunogenetics

Volume: 12 Issue: 8

Author(s): Omid Khalilzadeh, Sina Noshad, Armin Rashidi and Aliakbar Amirzargar

Affiliation:

Keywords: Cytokine, Graves, immunogenetics, ophthalmopathy, polymorphism, autoimmunity, Thyroid Eye Disease, PATHOGENESIS, CTLA-4, HLA

Abstract: Graves disease (GD) is the most common cause of thyrotoxicosis and often involves the orbits. Graves ophthalmopathy (GO), also known as Thyroid Eye Disease (TED), can be clinically significant and advance to sightthreatening stages. Our knowledge of the immunogenetic pathophysiology of GO is rapidly expanding. The present review is an attempt to summarize the current state of knowledge on the immunogenetics of GO. First we briefly review the epidemiology and clinical importance of GO, and then we describe in detail the macromolecular pathogenesis and finally immunogenetics of GO. Discrepancies between the results from various reports and the limitations of the available data are discussed. In particular, there is a scarcity of data from non-Asian populations. While several studies have demonstrated significant associations between polymorphisms in certain genes (especially CTLA-4, HLA-DRB-1, and TNF-α), there is a need for studies that investigate the relationship between polymorphisms and both serum and local concentrations of the resulting proteins. A complete understanding of GO susceptibility and pathogenesis has not been yet possible due to a number of important knowledge gaps that need to be filled by future research.

Cite this article as:

Khalilzadeh Omid, Noshad Sina, Rashidi Armin and Amirzargar Aliakbar, Graves Ophthalmopathy: A Review of Immunogenetics, Current Genomics 2011; 12 (8) . https://dx.doi.org/10.2174/138920211798120844