Wafaa Moustafa M Abo El Fotoh 1 , Dina Abd El Razek Midan 1 , Abeer Hamdy El Shalakany 2 . Show Affiliations »
Abstract
BACKGROUND: Type 1 Diabetes Mellitus (T1DM) is a multifactorial autoimmune disease. The Protein Tyrosine Phosphatase Non-receptor 22 (PTPN22) gene is an important negative regulator of signal transduction through the T-cell Receptors (TCR). A PTPN22 polymorphism, C1858T, has been found to be a risk determinant for several autoimmune diseases, including T1DM, in different populations. OBJECTIVE: The present study was aimed to analyze a possible association between the C1858T polymorphism in Egyptian children with T1DM. METHODS: This case-control study included 240 children divided evenly between T1DM patients and controls. The PTPN22 C1858T polymorphism was genotyped using polymerase chain reaction with Restriction Fragment Length Polymorphism (RFLP). RESULTS: Both the 1858CΤ and 1858ΤΤ genotypes and the 1858T allele were found more frequently in patients (32.5% and 18.7%, respectively) than in controls (10% and 5.0%, respectively), P=0.013 and P=0.007, respectively. Among females, the 1858T allele was more common in patients (18%) than in controls (2.6%), P=0.014. CONCLUSION: These findings suggest that the PTPN22 1858T allele could be a T1DM susceptibility factor in the Egyptian population and that it might play a different role in susceptibility to T1DM according to gender in T1DM patients. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.
BACKGROUND: Type 1 Diabetes Mellitus (T1DM) is a multifactorial autoimmune disease . The Protein Tyrosine Phosphatase Non-receptor 22 (PTPN22 ) gene is an important negative regulator of signal transduction through the T-cell Receptors (TCR). A PTPN22 polymorphism, C1858T , has been found to be a risk determinant for several autoimmune diseases , including T1DM, in different populations. OBJECTIVE: The present study was aimed to analyze a possible association between the C1858T polymorphism in Egyptian children with T1DM. METHODS: This case-control study included 240 children divided evenly between T1DM patients and controls. The PTPN22 C1858T polymorphism was genotyped using polymerase chain reaction with Restriction Fragment Length Polymorphism (RFLP). RESULTS: Both the 1858CΤ and 1858ΤΤ genotypes and the 1858T allele were found more frequently in patients (32.5% and 18.7%, respectively) than in controls (10% and 5.0%, respectively), P=0.013 and P=0.007, respectively. Among females, the 1858T allele was more common in patients (18%) than in controls (2.6%), P=0.014. CONCLUSION: These findings suggest that the PTPN22 1858T allele could be a T1DM susceptibility factor in the Egyptian population and that it might play a different role in susceptibility to T1DM according to gender in T1DM patients . Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.
Entities: Disease
Gene
Mutation
Species
Keywords:
C1858T; Egyptian; PTPN22; Polymorphism; RFLP; T1DM.
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Year: 2019
PMID: 29984661 DOI: 10.2174/1573399814666180709102533
Source DB: PubMed Journal: Curr Diabetes Rev ISSN: 1573-3998