Investigating autoimmune pathogenicity of single nucleotide polymorphism -linked truncated variants of TSH-receptor gene in Graves’ disease: an approach to applying genetics to personalized medicine
Graves‘ disease (GD) is an autoimmune condition affecting the thyroid gland. Thyroid eye disease (TED) is the associated inflammation of the eye, which leads to a reduction in quality of life. One of the confirmed genes of the disease is the TSHR gene. Small changes in the nucleotide sequence of TSHR gene have been found to play a role, known as SNP´s. More specific the variants ST4 and ST5 could act as main autoantigens.