Association Between PTPN22 Gene Polymorphism and Type1 Diabetes in Egyptian Population

Abstract

The protein tyrosine phosphatase, nonreceptor 22 gene (PTPN22) maps at human chromosome 1p13.3
which encodes an important negative regulator of T-cell activation, lymphoid-specific phosphatase
(Lyp). The PTPN22 gene has been shown to associate with a risk for multiple autoimmune diseases,
including type1 diabetes (T1DM). This study aimed to analyze the association of three PTPN22
polymorphisms in Egyptian population .The single nucleotide polymorphisms (SNP) at positions -1123
(rs#2488457), 1858 (rs#2476601), and +2740 (rs#1217412) were genotyped in 60 persons with T1DM,
and 60 control persons, all three SNPs were genotyping using two technique, allele specific PCR
technique and restriction fragment length polymorphism – PCR (RFLP-PCR). The 1858 C/T did not
show any significance differences between patients and control groups. (
MCP=1.0) whereas, respectively
-1123 G/C and +2740 A/G were significantly associated with T1DM disease (P≤0.0001) and
(P=0.012).These results suggest that the PTPN22 gene of SNPs polymorphisms were associated with
type 1 diabetes in Egyptian population. The difference in the association of the aforementioned SNPs
variants with T1DM among different populations may be attributed to the presence of multiple
susceptibility alleles.