Thyroglobuline gene polymorphisms in autoimmune thyroid diseases and detection of the association between HLA-DR3 and common thyroglobuline variants.

Autoimmune thyroid disease (AITD) are a group of complex diseases whichare caused by the interaction between genetic and enviromental factors and up to thepresent, susceptibility genes responsible to development AITD are identified byusing various tecniques. As can be seen other autoimmune diseases, it is known thatthe association between genes that are coding Human Leukocyte Antigens (HLA)and AITD and especially it is indicated the frequency of HLA-DR3 in Graves?disease (GD). Relating to thyroid spesific genes, it is implied that, thyroglobulin(TG) gene that is located 8q24 locus is the first gene for AITD.In our study, we investigated the distributions of E10SNP24, E10SNP158,E21SNP, E12SNP and E33SNP polymorphisms that are located in the TG gene inGD, Hashimato tiroiditis (HT) and healthy controls by using PCR-RFLP technique.We also determinated the existence of HLA-DR3 in GD and healthy control groupsby using PCR-SSP method and researched the association between E10SNP24,E10SNP158, E21SNP, E12SNP and E33SNP polymorphisms of TG gene and HLADR3.In accordance with the results, we found that, the risk in the development ofAITD was increased in individuals who were not carrier of E33SNP TT genotype. Itis also found that, the risk in the development of GD was increased in individualswho were not carrier of E12SNP AG genotype. The risk ratio of the development ofGD was found higher than HT in individuals who were not carrier E12SNP AGgenotype and individuals who were carrier of E12SNP GG genotype. However, therewas no evidence in the association between E10SNP24, E10SNP158, E21SNPpolimorphisms and AITD. We couldn?t observed any significant result about theeffect of E10SNP24, E10SNP158, E12SNP, E21SNP and E33SNP polymorphismsin combination with HLA-DR, in the development of GD.As the result of this study, we concluded that E33SNP TT genotype isassociated with AITD, E12SNP AG genotype is associated with GD and E12SNPAG and GG genotype are important in the comparision of the risk ratio of GD andHT. However, more extensive and advanced studies are needed about theassociation between GD and polymorphisms of TG gene in commination with HLADR3.