Determination the CTLA-4 and PTPN22 Gene Polymorphism in Graves’ Disease Patients
Keywords:Graves’ disease, PTPN22, PCR-RFLP
Graves’ disease (GD) is a multifactorial autoimmune disease with contribution from both genetic and
epigenetic factors in its causation. Gene “protein tyrosine phosphatase non receptor 22” (PTPN22) is an
important immune regulatory gene preventing hyper responsiveness of T cells by negatively regulating
their signal transduction. Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) gene polymorphisms belong to the
main genetic factors determining the susceptibility to development Graves’ disease. This study aimed to
analyze whether 1858 C/T SNP in PTPN22 and 1822 C/T SNP in CLTA-4 genes have any association with
GD in Iraqi population. PCR-RFLP was performed for genotyping 1858 C/T SNP and 1822 C/T SNP within
PTPN22 and CLTA-4 respectively, in patients with GD and healthy controls. Among the patients with GD,
the frequencies CLTA-4 CC, CT, and TT genotypes were 43.3%, 45%, and 11.6%, respectively, whereas in
healthy controls the frequencies of CC, CT genotypes were 60%, 30%, and 10%, respectively. While there
is no mutation recorded in PTPN22 1858 C/T SNP in both PCR-RFLP and DNA sequence analysis. These
results indicated that there is no significant association was found between PTPN22 1858 C/T SNP and
CLTA-4 in patients with GD. It has been concluded that GD is not associated with PTPN22 1858 C/T SNP
and 1822 C/T SNP of CLTA-4 in Iraqi population.
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