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Single-Nucleotide Polymorphisms in CCL2 Gene Are Not Associated with Susceptibility to Systemic Sclerosis MARIA TERESA CARULLI, PAOLO SPAGNOLO, CARMEN FONSECA, KENNETH I. WELSH, ROLAND M. duBOIS, CAROL M. BLACK, and CHRISTOPHER P. DENTON
ABSTRACT. 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 3¢ 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. (First Release Mar 15 2008; J Rheumatol 2008;35:839-44) Key Indexing Terms:
CHEMOKINES
From the Centre for Rheumatology, Royal Free Hospital and University College Medical School; and the Clinical Genomic Group, National Heart and Lung Institute, Department of Occupational and Environmental Medicine, Imperial College of Science, Technology and Medicine, London, UK. M.T. Carulli, MD; C. Fonseca, MD, PhD; C.M. Black, MD; C.P. Denton, MD, PhD, Centre for Rheumatology, Royal Free Hospital and University College Medical School; P. Spagnolo, MD, PhD; K.I. Welsh, PhD; R.M. duBois, MD, Clinical Genomic Group, National Heart and Lung Institute, Department of Occupational and Environmental Medicine, Imperial College of Science, Technology and Medicine. Address reprint requests to Prof. C.P. Denton, Centre for Rheumatology, Royal Free Hospital and University College Medical School, Rowland Hill Street, Hampstead, London, UK. E-mail: c.denton@medsch.ucl.ac.uk Accepted for publication December 12, 2007. |
