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Ptpn22 Gene Polymorphisms in Pediatric Systemic Lupus Erythematosus Publisher Pubmed



Bahrami T1 ; Valilou SF1, 2 ; Sadr M3 ; Soltani S1 ; Salmaninejad A4 ; Soltaninejad E5 ; Yekaninejad MS2 ; Ziaee V2 ; Rezaei N6, 7, 8
Authors
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Authors Affiliations
  1. 1. Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Tehran, Iran
  2. 2. Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Molecular Immunology Research Center, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Mashhad University of Medical Sciences, Mashhad, Iran
  5. 5. Birjand University of Medical Sciences, Birjand, Iran
  6. 6. School of Medicine, Department of Immunology, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  8. 8. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: Fetal and Pediatric Pathology Published:2020


Abstract

Objective: Pediatric systemic lupus erythematosus (PSLE) is a heterogeneous autoimmune disorder of unknown origin. PTPN22 gene polymorphisms have been associated with SLE in different populations. We investigated the associations of the rs2476601, rs1217414, rs33996649, rs1276457, and rs1310182 SNPs in the PTPN22 gene with PSLE. Materials and methods: 55 PSLE patients and 93 healthy controls were recruited. SNPs were genotyped by the real-time PCR allelic discrimination method. Results: We found that the PTPN22 polymorphisms rs1310182 A allele (p = 0.01, OR = 1.92 95% CI = 1.16–3.18), and rs1310182 AA genotype with (p < 0.001) and rs12760457 TT (p = 0.046) were associated with PSLE. No significant associations were found between other SNPs and PSLE. Conclusions: The PTPN22 rs1310182 A allele and rs1310182 AA genotype were associated with PSLE and may be a possible genetic marker for susceptibility to PSLE. However, further investigation would be required to elucidate the mechanistic role of this association. © 2019, © 2019 Taylor & Francis Group, LLC.
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