Graves disease (GD) is an autoimmune and polygenic disorder. The genetic loci conferring susceptibility need to be still defined. Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene has been reported to be associated with GD in various ethnic groups. The aim of the present study was to determine whether CTLA-4 gene was associated with GD in Turkish population. We evaluated the allele distribution of the following loci: CTLA-4 exon 1 (+49 A/G) and promoter (−318 C/T) region. We performed a case control study on 101 patients with GD (79F/22M; mean age; 45.0±14.0 years), and 103 healthy controls (51F/52M; mean age; 38.3±10.5 years). The polymorphisms were analyzed by using polymerase chain reaction fragment length polymorphism (PCR-RFLP). The genotype and alleles of patients and controls were compared using the Pearson X2 or Fishers exact test. The distribution of genotype and allele frequencies of the +49A/G and −318 C/T polymorphisms did not differ between patients with GD and healthy subjects statistically There was not a significant relationship between polymorphisms, and thyroid hormone levels before treatment, thyroid autoantibodies, ophtalmopathy, remission and recurrence rates among the patient group. In conclusion, our results do not suggest any significant contribution of common genetic CTLA-4 variants to genetic risk of developing Graves disease in our population.
25 - 29 Apr 2009
European Society of Endocrinology