Genetic polymorphisms of FOXP3 in Italian patients with systemic sclerosis

A case control study to evaluate the possible influence of FOXP3 polymorphisms(rs3761548 and rs2280883) in the susceptibility of systemic sclerosis in anItalian Caucasian population. Subgroup analysis was also performed to testassociation between these SNPs and specific disease phenotypes. The study groups consisted of 467 individuals: 228 patients (194 with limited cutaneous form and34 with diffuse cutaneous form of the disease) and 239 healthy control subjects. Genotyping was performed by high resolution melting analysis. Genotypedistribution and allele frequency of the FOXP3 polymorphisms were analyzedstatistically, using χ(2) or Fisher exact test. Single-marker analysis of allelicand genotype frequencies revealed that SNP rs3761548 was not associated withsystemic sclerosis susceptibility. Analysis of genotype and allele distributions of the rs2280883 genetic variant was associated, only in female subjects withsystemic sclerosis, its limited subtype, and anti-centromere autoantibodies.Although these findings require replication in a larger set and otherpopulations, FOXP3 rs2280883 may represent a novel susceptibility locus forsystemic sclerosis in female subjects.