Single-nucleotide polymorphisms in CCL2 gene are not associated with susceptibility to systemic sclerosis.
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.


CONCLUSIONS
Genetic polymorphisms within CCL2 gene are associated with susceptibility neither to SSc nor to specific disease phenotypes.
Carulli
Maria Teresa
MT
Centre for Rheumatology, Royal Free Hospital and University College Medical School, Hampstead, London, UK.
Spagnolo
Paolo
P
Fonseca
Carmen
C
Welsh
Kenneth I
KI
duBois
Roland M
RM
Black
Carol M
CM
Denton
Christopher P
CP
D016022:Case-Control Studies; D018932:Chemokine CCL2 / Q000235:genetics*; D002874:Chromosome Mapping; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012595:Scleroderma, Systemic / Q000235:genetics*
C111835:CCL2 protein, human; D018932:Chemokine CCL2