MEDICAL JOURNAL OF BAKIRKOY, cilt.18, sa.4, ss.419-426, 2022 (ESCI)
Objective: The aim of this study was to evaluate the possible role of the chemokine CXCL12 in the pathogenesis of some diseases. It also aims
to research diseases and connect with each other with bioinformatic tools.
Methods: STRING/GeneMANIA/KEGG PATHWAY/GSEA/MSigDB for gene set enrichment analysis for gene protein and pathway interaction,
TargetScan/miRDB for miRNAs targeting CXCL12, Blood eQTL Browser/ to target CXCL12 BIOS/QTLdb, GRASP and GWAS CXCL12 and
miRNA region SNPs were used for disease associations.
Results: Gene set enrichment analysis of the gene set co-expressed in the GSEA/MSigDB tool revealed the association of genes related
to allergic disease, arthritis, autoimmune disease of the musculoskeletal system, osteomyelitis (FDR<5E-06). Five hundred and ninety-three
miRNAs were identified. As a result of examining the disease associations of SNPs from each miRNA gene region in GWAS databases, it was
determined that P<7E-40 for B lymphoblastic leukemia/lymphoma. SNPs in CXCL12 did not show any GWAS associations, but blood eQTL/
meQTL for CXCL12 showed associations with respiratory system disease, intestinal disease, combined immunodeficiency, multiple sclerosis,
hepatitis (P<8E-06) and GWAS.
Conclusion: It is thought that CXCL12 may play a strong role in autoimmunity, inflammation, cancer and other diseases.