TY - JOUR T1 - Single-nucleotide polymorphisms in CCL2 gene are not associated with susceptibility to systemic sclerosis. JF - The Journal of Rheumatology JO - J Rheumatol SP - 839 LP - 844 VL - 35 IS - 5 AU - Maria Teresa Carulli AU - Paolo Spagnolo AU - Carmen Fonseca AU - Kenneth I Welsh AU - Roland M duBois AU - Carol M Black AU - Christopher P Denton Y1 - 2008/05/01 UR - http://www.jrheum.org/content/35/5/839.abstract N2 - OBJECTIVE: To validate the reported association between CC chemokine ligand 2 (CCL2) -2518 G single nucleotide polymorphism and systemic sclerosis (SSc) in a much larger cohort of patients. We also performed subgroup analysis to test the hypothesis that CCL2 variants predispose to specific disease phenotypes. METHODS: Ninety-four Caucasian patients with SSc and 102 matched controls were genotyped by sequence-specific primers-polymerase chain reaction (SSP-PCR) methodology. RESULTS: Six biallelic single-nucleotide polymorphisms (SNP) were investigated (3 in the promoter region, 2 in the exon-coding sequence, and 1 in the 3x untranslated region), in addition to the known functional -2518 (A/G) variant. Six major haplotypes were constructed across all 7 SNP positions. No significant differences in genotype, allele, or haplotype frequency were observed between patients and controls or within disease subgroups. CONCLUSION: Genetic polymorphisms within CCL2 gene are associated with susceptibility neither to SSc nor to specific disease phenotypes. ER -