The MCP-1 rs1024611 and MTHFR rs1801133 gene variations and expressions in alopecia areata: A pilot study

BACKGROUND: Monocyte chemoattractant protein-1 (MCP-1) is highly expressed by lymphocytes at skin sites affected by alopecia areata (AA). Variations in MCP-1 as well as in methylene-tetrahydrofolate reductase (MTHFR), a key enzyme related to many inflammatory pathologies, have been associated with several autoimmune disorders. This study was designed to test a possible association between MCP-1 and MTHFR variations and altered expression of their genes and the risk of AA.

METHODS: Blood samples of patients (60) suffering from AA as well as healthy subjects (60) were collected. Gene expression levels of MCP-1 and MTHFR were evaluated by real-time reverse-transcription polymerase chain reaction analysis. Moreover, MCP-1 rs1024611 (A-2518G) and MTHFR rs1801133 (C677T) polymorphisms were genotyped by using polymerase chain reaction-restriction fragment length polymorphism assays.

RESULTS: In contrast to MCP-1, the MTHFR gene expression was found to be significantly higher in patients than in controls. Further stratification of the patients revealed that polymorphic genotypes in MCP-1 (AG + GG) and MTHFR (CT + TT) could significantly alter gene expression levels. Elevation of MCP-1 expression was significantly associated with the total number of variant MCP-1 and MTHFR alleles. However, no statistically significant difference was noticed in the genotypic distribution of MCP-1 and MTHFR variations between patients and controls.

CONCLUSION: In summary, despite MCP-1 rs1024611 and MTHFR rs1801133 variations are not associated with AA risk, they may implicate the disease pathogenesis by influencing MCP-1 activity.