Genetic association of TSHR gene polymorphism with Autoimmune Thyroid Disease (AITD) in Vindhyan region of Madhya Pradesh

  • Unique Paper ID: 157420
  • Volume: 9
  • Issue: 7
  • PageNo: 120-132
  • Abstract:
  • The thyroid stimulating hormone receptor (TSHR) represents the primary autoantigen in GD, in which autoantibodies bind to the receptor and mimic its ligand, thyroid stimulating hormone, causing the characteristic clinical phenotype. Although early studies investigating the TSHR and GD proved inconclusive, more recently we provided convincing evidence for association of the TSHR region with disease. Intronic thyroid-stimulating hormone receptor polymorphisms have been associated with the risk for both Graves’ disease and Graves’ ophthalmopathy, but results have been inconsistent among different populations. We aimed to investigate the influence of thyroid-stimulating hormone receptor intronic polymorphisms in a large well characterized population of GD patients. The Autoimmune Thyroid Disease (AITD) patients had markedly higher levels of FT3 (P=0.0192*) and ratio of FT3/FT4 (P<0.0001***) whereas low level TSH (P<0.0001***) were significantly associated to Autoimmune Thyroid Disease (AITD). Whenever, rests of all parameters were not significantly different between patient and healthy population. Genotype frequency distribution between case and control group was significantly associated with Autoimmune Thyroid Disease (χ2 = 0.0174*, P= 8.103). In addition, Allele frequency (χ2 = 3.287, P= 0.0698) and carriage rate (χ2 = 2.269, P=0.1320) between both groups was not significantly associated to Autoimmune Thyroid Disease. allele ‘A’ was found little lower frequency in disease group as compared to HC group whereas allele ‘G’ was present in little high frequency in the disease group but the difference is nominal and was not significant (χ2 = 3.287, P= 0.0698). Carriage rate of allele ‘G’ was slightly high in Autoimmune Thyroid Disease.

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