Graves' disease is significantly associated with specific alleles of HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1, encompassing both Class I and Class II Human Leukocyte Antigens.
Understanding HLA and Graves' Disease
Human Leukocyte Antigens (HLAs) are proteins found on the surface of most cells in the body, playing a crucial role in the immune system by presenting antigens to T-cells. They are essential for distinguishing between self and non-self, and specific variations (alleles) of these genes are linked to an increased susceptibility to autoimmune diseases like Graves' disease.
Graves' disease is an autoimmune disorder that leads to an overactive thyroid gland (hyperthyroidism). Genetic factors, particularly within the HLA complex, are known to contribute to an individual's risk of developing the condition.
The associated HLA types can be broadly categorized into:
- Class I HLAs: Found on almost all nucleated cells, these primarily present antigens from inside the cell. In the context of Graves' disease, specific alleles of HLA-B and HLA-C have been identified as risk factors.
- Class II HLAs: Primarily found on antigen-presenting cells (such as macrophages, dendritic cells, and B cells), these present antigens from outside the cell. For Graves' disease, alleles of HLA-DRB1 and HLA-DQB1 are particularly relevant.
Specific HLA Alleles Associated with Graves' Disease
Research has established a significant association between the risk of Graves' disease (GD) and the presence of several specific HLA alleles. These genetic markers contribute to an individual's predisposition to developing the autoimmune condition.
The following table details the specific HLA alleles that have shown a significant association with Graves' disease:
HLA Locus | Associated Alleles | HLA Class |
---|---|---|
HLA-B | *08:01, *39:06, *37:01 | Class I |
HLA-C | *07:01, *14:02, *03:02, *17:01 | Class I |
HLA-DRB1 | *03:01, *11:01, *13:03, *01:03, *14:01 | Class II |
HLA-DQB1 | *03:01, *02:01 | Class II |
These specific alleles, identified through genetic studies, highlight the complex interplay between an individual's genetic makeup and their likelihood of developing Graves' disease. Understanding these genetic predispositions can contribute to a deeper insight into the pathogenesis of this autoimmune condition.