Genetic polymorphisms of FOXP3 in Italian patients with systemic sclerosis

Fabio D'Amico, Evangelia Skarmoutsou, Maurizio Marchini, Grazia Malaponte, Monica Caronni, Raffaella Scorza, Maria Clorinda Mazzarino

Research output: Contribution to journalArticlepeer-review


A case control study to evaluate the possible influence of FOXP3 polymorphisms (rs3761548 and rs2280883) in the susceptibility of systemic sclerosis in an Italian Caucasian population. Subgroup analysis was also performed to test association between these SNPs and specific disease phenotypes. The study groups consisted of 467 individuals: 228 patients (194 with limited cutaneous form and 34 with diffuse cutaneous form of the disease) and 239 healthy control subjects. Genotyping was performed by high resolution melting analysis. Genotype distribution and allele frequency of the FOXP3 polymorphisms were analyzed statistically, using χ2 or Fisher exact test.Single-marker analysis of allelic and genotype frequencies revealed that SNP rs3761548 was not associated with systemic sclerosis susceptibility.Analysis of genotype and allele distributions of the rs2280883 genetic variant was associated, only in female subjects with systemic sclerosis, its limited subtype, and anti-centromere autoantibodies. Although these findings require replication in a larger set and other populations, FOXP3 rs2280883 may represent a novel susceptibility locus for systemic sclerosis in female subjects.

Original languageEnglish
Pages (from-to)109-113
Number of pages5
JournalImmunology Letters
Issue number2
Publication statusPublished - 2013


  • Anticentromere antibodies
  • Autoimmunity
  • FOXP3 gene
  • Single nucleotide polymorphisms
  • Systemic sclerosis

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy
  • Medicine(all)


Dive into the research topics of 'Genetic polymorphisms of FOXP3 in Italian patients with systemic sclerosis'. Together they form a unique fingerprint.

Cite this