Functional polymorphisms of Monocyte Chemoattractant Protein-1 gene and Pott’s disease risk

Abstract Objective Monocyte Chemoattractant Protein-1 (MCP-1/CCL2), a key player in immune-mediated responses against Mycobacterium tuberculosis , is encoded by a polymorphic gene. Functionally relevant polymorphic variations in the MCP-1 gene have been associated with both susceptibility to and protection against tuberculosis-related disorders. Here, we investigated the potential impact of some of these polymorphisms on Pott’s disease risk in a patient cohort from Algeria. Methods DNA from 132 Algerian patients with exclusive Pott’s disease and 204 healthy controls, included under a case-control design, were analyzed for the MCP1 -2518A/G ( rs 1024611), -362G/C ( rs 2857656) and int1del554-567 ( rs 3917887) polymorphisms. PHASE software was used for haplotype reconstruction. Genetic associations were examined using chi-square tests. Results We found that the rs 1024611 -2518 GG, rs 2857656 -362 CC and rs 3917887 int1del554-567 del/del homozygous genotypes each were significantly more prevalent in patients than in controls (respective corrected p value [ Pc ] = 0.01, 0.04 and 0.04) Haplotype distribution profile further confirmed this, as the homozygous combination of GC del haplotype was also found with raised susceptibility to Pott’s disease ( Pc  = 0.03). Conclusion Our findings confirm and replicate the recent data from China (which dealt essentially with rs 1024611 and rs 2857656) and also reinforce them by providing trans -ethnic evidence and extending the genetic association to the rs 3917887.