IN SILICO APPROACH TO GENETICS AND EPIGENETIC MECHANISMS IN SYSTEMIC LUPUS ERYTHEMATOSUS: FOCUS ON IMMUNE RESPONSE GENES
Objective: Systemic lupus erythematosus (SLE) is a multifaceted autoim mune condition characterised by irregular immune reactions and genetic susceptibility. The aim of this in silico study was to investigate immune response genes during SLE pathogenesis, focusing on genetic and epige netic regulati...
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| Format: | Article |
| Language: | English |
| Published: |
Istanbul University Press
2024-10-01
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| Series: | Sabiad |
| Subjects: | |
| Online Access: | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/289E7BA3D0C242AFAED176CACA0225D5 |
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| Summary: | Objective: Systemic lupus erythematosus (SLE) is a multifaceted autoim mune condition characterised by irregular immune reactions and genetic susceptibility. The aim of this in silico study was to investigate immune response genes during SLE pathogenesis, focusing on genetic and epige netic regulation. Materials and Methods: This study involving 1255 patients with SLE and 453 control subjects aimed to identify genes associated with the immune response and examine their expression and DNA methylation levels in both patients with SLE and controls. The study design utilized the ADEX open-access database. Results: The study identified 10 differentially expressed immune respon se-related genes (FAM117B, ZNF395, PGAP3, PIK3IP1, HLA-DMB, HLA DPA1, HLA-DRB3, HLA-DQA1, HLA-DPB1, and CCL5) in SLE pathogenesis, with 78 corresponding methylation sites. Upregulation of HLA-DQA1, HLA-DMB, and CCL5 was observed in patients with SLE, whereas the rema ining genes exhibited decreased expression. HLA-DPA1, HLA-DPB1, HLA DMB, HLA-DQA1, CCL5, and ZNF395 were found to be the most hyper methylated genes in SLE. Methylation of the CpG islands of HLA-DPB1, CCL5, FAM117B, and ZNF395 is correlated with their expression levels in SLE. Conclusion: Our findings shed light on the genetic and epigenetic mecha nisms underlying SLE and underscore the importance of these genes in immune dysregulation and disease progression. Further research on the functional significance of these genes could provide valuable insights into the pathogenesis of SLE and potential therapeutic targets. |
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| ISSN: | 2651-4060 |