PTPN22 gene and IL2RA rs11594656, rs2104286 gene variants: additional insights of polygenic single-nucleotide polymorphisms’ pattern among Egyptian children with type 1 diabetes

• Published in: The Gazette of the Egyptian Paediatric Association 2021-11, Vol.69 (1), p.1-9, Article 35
• Main Authors: Abou El Ella, Soheir S., Tawfik, Maha A., Mohammed, Zeinab Sabri, Barseem, Naglaa Fathy
• Format: Article
• Language: English
• Subjects: Age; And RFLP; Antigens; Blood pressure; Cytokines; Diabetes; Disease; Endocrinology; Enzymes; Family medical history; Genes; Homeostasis; IL2RA rs11594656; Illnesses; Laboratories; Males; Medicine; Medicine & Public Health; Patients; Pediatrics; Polymorphism; Proteins; PTPN22; rs2104286; T1DM
• ISSN: 2090-9942; 1110-6638; 2090-9942
• DOI: 10.1186/s43054-021-00079-7

Background 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. PTPN22 gene, IL2RA rs11594656, and rs2104286 polymorphisms study were done by PCR followed by restriction fragment length polymorphism (RFLP) assay. Results T 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. Conclusion PTPN22 (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.