Poster Session : PS 0463 ; Genetics ; Combined Effects of Thyroglobuline Polimorphisms with HLA-DR Locus and Gender Factor in Graves` Disease = Poster Session : PS 0463 ; Genetics ; Combined Effects of Thyroglobuline Polimorphisms with HLA-DR Locus and Gender Factor in Graves` Disease

다국어 초록 (Multilingual Abstract)

Background: Etiology of autoimmune thyroid diseases (AITD), including Graves` disease (GD) and Hashimoto thyroiditis (HT) is multifactorial with female dominance. Thyroglobuline (TG) among thyroid specifi c genes and DR locus of human leukocyte antigen (HLA) encoding genes among immune specifi c genes were reported as fi rst candidate loci in their own groups. However, distribution results of polymorphisms both in TG and HLA-DR in different ethnic backround have been shown incompatible Methods: Two hundred twenty one samples, consisting of 140 AITD (70 GD and 70 HT) patients and 70 controls were included to the study. Single nucleotide polymorphisms (SNPs) in TG: rs180223, rs2069550, rs853326, rs853303 and rs2076740 were analysed by PCR-RfiP and sequenced in 20 samples for confi rmation. Linkeage-disequilibrium were analysed between included SNPs. In fi nal step, determined risk-containing factors were evaluated with DRB1*15 (detected in previous study) and gender in GD. Results: T,T genotype of rs2076740 were signifi cantly higher in controls than AITD patients (p=0.038). There were remarkable differences of GD with both HT patients and controls (p=0.033) for rs853326. A,G genotype were decreased in GD patients in comparition with controls (OR: 2.389) and HT patients (OR=2.591). G,G genotype were dramatically decreased in HT patients in comparition with GD (OR: 2.591). Sequences of amplifi ed region of TG SNPs were compatible with RfiP Results: Strong linkeage between rs180223, rs2069550 and rs853326 were also detected. In combination of A,G genotype absence for rs853326 with DRB1*15 and being female were shown in increasingly rise from single factor to more factors in GD in comparision with controls. Conclusions: Analysis of combined effects of TG SNPs with HLA-DR locus and gender factors might be seen more benefi cial in stead of single succestibility allele determination for predisposition of GD..