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An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis
Published on: February 8, 2019
Genetic epidemiology. Giant cell arteritis and polymyalgia rheumatica
1Rheumatology Division, Hospital-Xeral Calde, Lugo, Spain. miguelaggay@hotmail.com
Insights
Giant cell arteritis (GCA) and polymyalgia rheumatica (PMR) are linked conditions in older adults. Genetic factors like HLA-DRB1*04 and others influence susceptibility, but more research is needed.
Area of Science:
- Rheumatology
- Immunogenetics
- Epidemiology
Background:
- Giant cell arteritis (GCA), also known as temporal arteritis, and polymyalgia rheumatica (PMR) are common inflammatory conditions affecting individuals over 50.
- These two conditions are frequently observed together, suggesting shared underlying mechanisms.
- While GCA is strongly associated with HLA-DRB1*04 alleles, the genetic susceptibility for isolated PMR appears to be population-dependent.
Purpose of the Study:
- To review the current understanding of genetic factors influencing susceptibility to GCA and PMR.
- To explore the roles of human leukocyte antigen (HLA) class II alleles, tumor necrosis factor (TNF), and specific gene polymorphisms in the pathogenesis of these conditions.
Main Methods:
- Review of existing literature on the genetic associations of GCA and PMR.
- Analysis of studies investigating HLA class II alleles, TNF, and polymorphisms in ICAM-1, RANTES, and IL-1 receptor antagonist genes.
Main Results:
- A consistent association between GCA and HLA-DRB1*04 alleles has been reported.
- Tumor necrosis factor (TNF) is implicated in the susceptibility to both GCA and PMR.
- Gene polymorphisms in ICAM-1, RANTES, and IL-1 receptor antagonist may contribute to GCA and PMR pathogenesis in certain populations.
Conclusions:
- Genetic factors, including HLA alleles and polymorphisms in inflammatory mediator genes, play a role in GCA and PMR susceptibility.
- Further research is necessary to fully elucidate the complex genetic landscape underlying these related rheumatological conditions.
Abstract:
Giant cell arteritis (GCA) (temporal arteritis) and polymyalgia rheumatica (PMR) are common, frequently related conditions in people generally over 50 years of age. Most studies have shown an association of GCA with HLA-DRB1 *04 alleles. As regards isolated PMR, however, the HLA class II genetic susceptibility varies from one population to another. Besides associations with HLA, tumor necrosis factor appears to influence susceptibility to both conditions. Genetic polymorphisms have also been considered to be important candidates as factors of susceptibility to GCA and PMR. In this regard, gene polymorphisms for ICAM-1 (intercellular adhesion molecule 1), RANTES (regulated upon activation, normal T cell expressed, and presumably secreted), and interleukin (IL)-1 receptor antagonist seem to play a role in the pathogenesis of GCA and PMR in some populations. However, additional studies are required to clarify the genetic influence on susceptibility to these conditions.
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