The -2518A>G promoter polymorphism in the CCL2 gene is not associated with systemic sclerosis susceptibility or phenotype: results from a multicenter study of European Caucasian patients.

Contains fulltext : 81380.pdf (publisher's version ) (Closed access)A single nucleotide polymorphism (SNP) of the gene encoding monocyte chemoattractant protein-1 (MCP-1, CCL2) has previously been suggested to be involved in the susceptibility of systemic sclerosis (SSc). Here we have tested whether the -2518A>G CCL2 variant is associated with SSc susceptibility and/or phenotype using a cohort of SSc patients (n = 345). Clinical data from SSc patients attending rheumatology clinics in the Netherlands and Germany was collected DNA was obtained after informed consent. The control group used (n = 272) was randomly recruited from comparable geographic regions. The -2518A>G SNP in CCL2 (rs1024611) was determined using a Taqman SNP Genotyping assay. The genotype distribution was found to be similarly distributed among SSc patients and healthy controls. In addition, no association could be detected between the genotype and the presence of antinuclear antibodies, anticentromere antibodies, and antitopoisomerase antibodies or pulmonary involvement. Our results demonstrate that the functional variant -2518A>G of CCL2 is not implicated in the susceptibility or phenotype of SSc