A C/T Polymorphism at the 5’ Untranslated Region of CD40 Gene in Patients Associated with Graves’ Disease in Kumaon Region

Background: Graves’ disease (GD) is an autoimmune disorder with genetic predisposition and CD40 plays a pathogenic role in various autoimmune diseases. A single nucleotide polymorphism (SNP) at position –1 of the Kozak sequence of the 5 untranslated region of CD40 gene of exon 1 has been reported to be associated with the development of GD. Objective: The aim of the present study was to investigate whether CD40 gene polymorphism confers susceptibility to GD in Kumaon region. CD40 gene polymorphisms were studied in GD patients (n=50) and healthy control subjects without anti-thyroid autoantibodies or a family history of autoimmune disorders (n=50). Material and Method: CD40 gene polymorphisms were studied in fifty GD patients and fifty healthy control subjects. All samples collected from STG Hospital, Haldwani, Nainital. A C/T polymorphism at position –1 of the CD40 gene was measured using the polymerase chain reaction restriction fragment length polymorphism. Results: There was no significant difference in allele or genotype frequency of the CD40 SNP between GD and control subjects. There was a significant decrease in the TT genotype frequency in the GD patients, who developed GD after 40 years old, then those under 40 years of age. These data suggest that the SNP of CD40 gene is associated with susceptibility to later onset of GD. Conclusion : The CD40 gene was a new susceptibility gene for GD within certain families because it was both linked and associated with GD. Keywords: Autoimmune Diseases, Pathogenesis, Diagnosis, Therapy