PTPN22 1858 C/T Exon Polymorphism is not Associated with Graves' Disease in Kashmiri population.

Background: Graves' disease (GD) is a multifactorial autoimmune disease with contribution from both genetic and epigenetic factors in its causation. Association of genetic factors and GD has been extensively studied. Gene "protein tyrosine phosphatase nonreceptor 22" () is an important immunoregulatory gene preventing hyper responsiveness of T cells by negatively regulating their signal transduction. Association of single-nucleotide polymorphism (SNP) 1858 C/T within with some autoimmune diseases has been described.

Methods: We aimed to analyze whether 1858 C/T SNP of gene has any association with GD in Kashmiri population. Polymerase chain reaction-restriction fragment length polymorphism was performed for genotyping 1858 C/T SNP in 135 patients with GD and 150 age- and gender-matched healthy controls.

Results: Among the patients with GD, the frequencies of 1858 CC, CT, and TT genotypes were 97.7, 2.2, and 0%, respectively, whereas in healthy controls the frequencies of CC, CT genotypes were 100 and 0%, respectively. No significant association was found between 1858 C/T SNP and patients with GD.

Conclusion: GD is not associated with 1858 C/T SNP in Kashmiri population. Furthermore, 1858 C/T SNP in gene could be a part of variation in different ethnic populations across the globe.