Role of gene polymorphisms in Graves' disease development

This research work was conducted in the department of endocrinology; Sher-I-Kashmir Institute of Medical Sciences (SKIMS), the purpose of the research work was to find a possible association of various Single Nucleotide Polymorphisms (SNPs) in some important immunoregulatory genes with the risk of Graves¿ disease (GD). GD is an autoimmune disease of the thyroid gland. GD is the commonest cause of hyperthyroidism in iodine sufficient population of the world. It results from an abnormality in the immune system, which produces unique antibodies causing over production of thyroid hormones and glandular hyperplasia in individuals with genetic susceptibility. We found a strong association of following SNPs CTLA-4 +49 A/G, CTLA-4 CT60 A/G, FoxP3 -2383 C/T, Foxp3 -3279 C/A, IL-1b -511 T/C and IL-1b 3954 C/T with the risk of GD development.