Exploring the Role of PADI4 rs874881 and rs1635564 in Susceptibility to Systemic Lupus Erythematosus and Lupus Nephritis in Egyptian patients | ||||
| Egyptian Journal of Medical Microbiology | ||||
| Article 11, Volume 34, Issue 1, January 2025, Page 91-98 PDF (318.84 K) | ||||
| Document Type: New and original researches in the field of Microbiology. | ||||
| DOI: 10.21608/ejmm.2024.326662.1353 | ||||
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| Authors | ||||
Ingy Ashmawy   1; Abeer Ramadan2; Maha Abdelhadi3
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| 1Department of Clinical and Chemical Pathology, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt | ||||
| 2Department of Molecular Genetics and Enzymology, Human genetics and genome research institute, National Research Centre, Cairo, Egypt | ||||
| 3Internal Medicine Department, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt | ||||
| Abstract | ||||
| Background: Systemic lupus erythematosus (SLE) is an autoimmune disease with pathogenesis involving immune complex deposition in various organs resulting in inflammation and tissue damage. Lupus nephritis (LN) is a crucial clinical manifestation of SLE. Immune complex deposition leads to neutrophil activation and death with neutrophil extracellular traps (NETs) generation. NETs are formed of histones, chromatin fibrils and antimicrobial peptides. Chronic NETs formation (NETosis) aggravates inflammatory tissue and is believed to be dependent on histone citrullination. Peptidylarginine deiminase-4 (PADI4) enzyme is essential for citrullination and highly expressed by neutrophils. PADI4 functionality and expression might be influenced by single-nucleotide polymorphisms (SNPs) in PADI4 gene. Objective: The aim of this work is to study the possible association of PADI4 rs874881 and rs1635564 SNPs with SLE and LN susceptibility in the Egyptian population. Methodology: this case control study encompasses 102 SLE patients (including 52 LN patients) and 50 healthy controls, all were subjected to genotyping analysis of PADI4 rs874881 and rs1635564 SNPs by Real-Time Polymerase Chain Reaction (PCR) technique. Results: Concerning PADI4 rs874881 polymorphism, genotype and allele frequencies did not show any significant differences between SLE patients and healthy controls (p=0.1 and 0.2 respectively), or between SLE patients with or without LN (p= 0.1 and 0.9 respectively). Regarding PADI4 rs1635564 there was no statistical significance between SLE patients and healthy controls in distribution of genotypes or alleles (p=0.07 and 0.8 respectively), and the same for SLE patients with or without LN with p=0.2 for both of them. Conclusion: PADI4 gene polymorphisms rs874881 and rs1635564 did not show any association with SLE or LN in our sample of Egyptian patients from Cairo. | ||||
| Keywords | ||||
| Systemic lupus erythematosus; lupus nephritis; PADI4 polymorphisms; rs874881; rs1635564 | ||||
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