Open AccessAssociation Between PTPN22 Gene Polymorphism and Type1 Diabetes in Egyptian Population
Author(s) -
Ali Salim Al-shehmany Al-shehmany,
Ahmad A. El Kafoury El Kafoury,
Medhat Haroun,
Amira M. Embaby
Publication year - 2015
Publication title -
maǧallaẗ markaz buḥūṯ al-taqniyyaẗ al-aḥyāʾiyyaẗ
Language(s) - English
Resource type - Journals
eISSN - 2708-1370
pISSN - 1815-1140
DOI - 10.24126/jobrc.2015.9.2.430
Subject(s) - ptpn22 , single nucleotide polymorphism , genetics , biology , genotyping , allele , genotype , restriction fragment length polymorphism , snp , population , snp genotyping , type 1 diabetes , microbiology and biotechnology , gene , diabetes mellitus , medicine , endocrinology , environmental health
The protein tyrosine phosphatase, nonreceptor 22 gene (PTPN22) maps at human chromosome 1p13.3which 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 PTPN22polymorphisms 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 PCRtechnique and restriction fragment length polymorphism – PCR (RFLP-PCR). The 1858 C/T did notshow 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 withtype 1 diabetes in Egyptian population. The difference in the association of the aforementioned SNPsvariants with T1DM among different populations may be attributed to the presence of multiplesusceptibility alleles.