Primary Literature Review
"CTLA4 gene and Graves’ disease: association of Graves’ disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism"
Genetic Link to Grave's Disease is Exposed
Grave's disease is a type of autoimmune thyroid disorder where the bodies immune system is reactive against its own thyroid cells. Grave's disease is characterized the presence of antibodies that incorrectly target a hormone receptor present on thyroid cells. The antibodies bind to and stimulate the thyroid gland to synthesize and release thyroid hormone, resulting in hyperthyroidism. Susceptibility to Grave's disease includes a variety of factors, with several studies indicating a strong genetic component. Previous studies have identified the gene for cytotoxic T-lymphocyte associated antigen 4 (CTLA-4) as a risk factor for developing autoimmune disorders. The gene plays an important role in the negative modulation of immune function. Before scientists can target the gene for therapeutic measures, it is important to assess the relationships between the gene and Grave's disease.
The results of the study performed by Bicek-Zaletel are consistent with previous findings that certain mutations in CTLA-4 are significantly associated with the development of Grave’s Disease. Although, the study was unable to confirm an association of the gene with other forms of autoimmune disease. Understanding the genetic component of Grave’s disease is necessary for understanding its pathology and susceptibility. Additional studies are needed to identify how mutations in CTLA-4 alter cellular mechanisms of the immune response.
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The results of the study performed by Bicek-Zaletel are consistent with previous findings that certain mutations in CTLA-4 are significantly associated with the development of Grave’s Disease. Although, the study was unable to confirm an association of the gene with other forms of autoimmune disease. Understanding the genetic component of Grave’s disease is necessary for understanding its pathology and susceptibility. Additional studies are needed to identify how mutations in CTLA-4 alter cellular mechanisms of the immune response.
Click here for link to full online text
Vaidya, B., Oakes, E. J. C., Imrie, H., Dickinson, A. J., Perros, P., Kendall-Taylor, P. and Pearce, S. H. S. (2003), CTLA4 gene and Graves’ disease: association of Graves’ disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism. Clinical Endocrinology, 58: 732–735. doi:10.1046/j.13652265.2003.01778.x
