-2518A/G polymorphism of monocyte chemotactic protein 1 (MCP-1/CCL2) is associated with cutaneous mastocytosis

INTRODUCTION: Mastocytosis is a rare heterogeneous disease associated with pathological accumulation of mast cells (MCs) in one or more organs. The disease may be limited to the skin (cutaneous mastocytosis – CM), or present an internal organ involvement (systemic mastocytosis – SM). Pathophysiology of the disease is not well established. However altered proliferation, differentiation and chemotaxis of MC may play an essential role in the development of the disease. The monocyte chemotactic protein 1 (MCP-1/CCL2) may be one of the factors responsible for MCs migration to the skin and other organs. AIM: To analyse the frequency of biallelic A/G polymorphisms at position -2518 in the promoter of the MCP-1 gene and compare the serum level of MCP-1 in patients with both forms of mastocytosis and the healthy control group. MATERIAL AND METHODS: Using ARMS-PCR methods we analysed -2518A/G polymorphisms in the promoter region of the MCP-1 gene in 127 mastocytosis patients (95 CM and 32 SM), and 160 healthy controls. Additionally, the MCP-1 serum level was detected with ELISA technique in 70 patients and 40 controls. RESULTS: We have found that CM patients have more frequently the GG genotype of the MCP-1 gene (p = 0.01) in comparison to SM patients and controls. The GG genotype was more frequent in children than in adults (p = 0.02). The MCP-1 serum level was higher in SM patients than in CM patients and controls. CONCLUSIONS: Results of this study indicate that cutaneous mastocytosis could be associated with the -2518 A/G MPC-1 gene polymorphism.