Association Between PTPN22 Gene Polymorphism and Type1 Diabetes in Egyptian Population
| Autor: | Ali Salim Al-shehmany Al-shehmany, Ahmad A. El- Kafoury El- Kafoury, Medhat A. Haroun Haroun, Amira M. Embaby Embaby |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: | |
| Zdroj: | مجلة مركز بحوث التقنيات الاحيائية, Vol 9, Iss 2 (2015) |
| Druh dokumentu: | article |
| ISSN: | 1815-1140 2708-1370 |
| DOI: | 10.24126/jobrc.2015.9.2.430 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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