Abstract
BackgroundType 1 diabetes mellitus (T1D) results from environmental and genetic factors.We aimed to investigate the distribution of PTPN22, IL2RA rs11594656, and rs2104286 variants and its association with T1D in children.A case-control study conducted on 100 diabetic patients and 100 control children. PTPN22 gene, IL2RA rs11594656, and rs2104286 polymorphisms study were done by PCR followed by restriction fragment length polymorphism (RFLP) assay.ResultsT allele of PTPN22 gene was presented more frequently 47% in patient group versus 30% in controls, while C allele was 53% in the diabetic group versus 70% in controls showing a statistically significant difference between patient and control groups. Similarly, TT 1858 genotype was found in higher frequency with a statistically significant difference in favor of T1D patients (p = 0.038), OR (CI 95% 3.16 (1.28–7.09).For IL2RA rs11594656 polymorphism, the frequency of TT, TA, and AA in patients at percentages of 20%, 60%, and 20% versus 4%, 60%, and 36% in controls respectively showed significant difference (p = 0.045). Also, T allele was detected more in patients group as evidenced by p = 0.059, OR (95% CI) of 2.38(1.49–6.12). Whereas, IL2RA rs2104286 polymorphism revealed a difference of otherwise non-statistical significance (p = 0.091). Those who harbored homozygous pattern of both IL2RA polymorphisms frequently had DKA and high mean HbA1C values.ConclusionPTPN22 (C1858T) and IL2RA rs11594656 polymorphisms increased the risk of T1DM development, while IL2RA rs2104286 polymorphism did not display any significant association among children with T1D. Having more than one risk allele could affect progression and control of T1D.
Highlights
Type 1 diabetes mellitus (T1D) results from environmental and genetic factors.We aimed to investigate the distribution of Protein tyrosine phosphatase non-receptor type 22 (PTPN22), interleukin 2 receptor alpha (IL2RA) rs11594656, and rs2104286 variants and its association with T1D in children.A case-control study conducted on 100 diabetic patients and 100 control children
For IL2RA rs11594656 polymorphism, the frequency of the homozygous pattern (TT), TA, and AA in patients at percentages of 20%, 60%, and 20% versus 4%, 60%, and 36% in controls respectively showed significant difference (p = 0.045)
All patients and controls were subjected to the following: Detailed history taking including family pedigree, complete examination of all body systems including anthropometric measurements was done followed by molecular study of PTPN22 gene polymorphism and that of IL2RA rs11594656, rs2104286 polymorphisms were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP), and the procedure was completed through these steps: DNA extraction using DNA was extracted by DNA extraction kit (Gene JET Whole Blood Genomic DNA Purification Mini Kit) according to the manufacturer’s instructions
Summary
Type 1 diabetes mellitus (T1D) results from environmental and genetic factors.We aimed to investigate the distribution of PTPN22, IL2RA rs11594656, and rs2104286 variants and its association with T1D in children.A case-control study conducted on 100 diabetic patients and 100 control children. Type 1 diabetes mellitus (T1D) results from environmental and genetic factors. We aimed to investigate the distribution of PTPN22, IL2RA rs11594656, and rs2104286 variants and its association with T1D in children. PTPN22 gene, IL2RA rs11594656, and rs2104286 polymorphisms study were done by PCR followed by restriction fragment length polymorphism (RFLP) assay. Type 1 diabetes mellitus (T1D) is a genetically complex disorder of glucose homeostasis that results from autoimmune destruction of the insulin-secreting cells of the pancreas. HLA is accounting for about 60% of genetic susceptibility for the disease. About 20 non-HLA loci contributing to disease susceptibility have been identified include the insulin gene, cytotoxic T-lymphocyte antigen-4 gene (CTLA-4), PTPN22 gene, and IL2RA gene [4]
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