Journal of Contemporary Medicine (Sep 2022)
An Alternative Perspective to the FMF Clinic: MCP-1 (A-2518G) and CCR2 (G190A) Polymorphisms and MCP1 Expression
Abstract
Background: Familial Mediterranean Fever (FMF) is an autoinflammatory disease and may express as various clinical findings. Chemokines are crucial elements of the inflammatory process. MCP-1 and its’ receptor CCR2 are the main chemokines for monocytes/macrophages that may play critical roles in FMF. Thus, it was aimed to investigate the MCP-1 (A-2518G) and CCR2 (G190A) polymorphisms and MCP-1 expression level, which may affect MEFV gene function. Material and Method: Patients with FMF were identified according to the Tel-Hashomer criteria. DNA and RNA were isolated from the obtained blood samples. Genotyping analysis was performed by PCR-RFLP technique. In addition, expression analyzes were performed by Real-time PCR method. The obtained results were evaluated statistically. Results: A total of 229 individuals (125 male and 104 female) were included in the study. While 120 individuals had FMF clinic, and 107 individuals did not have. The remaining two individuals had suspicious clinical status. In addition, while 75 individuals were homozygous mutants, 77 individuals were heterozygous mutants, and 77 individuals did not carry mutation in the MEFV gene. No significant relationship was found in between both FMF clinic and MEFV genotypes, and MCP-1 (A-2518G) and CCR2 (G190A) genotypes. In the expression analysis, MCP-1 expression increased in patients with FMF clinic compared to those without. In addition, MCP-1 expression was increased in the heterozygous MEFV group compared to those without mutation, moreover, the expression level was highest in homozygous MEFV group. In addition, according to the MCP-1 (A-2518G) genotyping, MCP-1 expression elevated in the homozygous as well as the heterozygous groups, compared to the Wild type group. Conclusion: MCP-1 expression is increased in FMF disease, which may explain the clinical differences between FMF patients. MEFV mutations may exacerbate inflammation by increasing MCP-1 transcription. MCP-1 expression is increased in patients with MCP-1(A-2518G) mutations, which aggravates FMF clinic. MCP-1 expression may be assessed as a marker in suspicious cases. Keywords: Familial Mediterranean Fever, MCP-1, CCR2, expression
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