title: Genetic polymorphisms of FOXP3 in Italian patients with systemic sclerosis.
abstract: 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 χ(2) 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.
authors.affiliation: Department of Bio-medical Sciences, University of Catania, via Androne 83, I-95124 Catania, Italy. f.damico@unict.it
authors.forename: Fabio
authors.initials: F
authors.lastname: D'Amico
authors.forename: Evangelia
authors.initials: E
authors.lastname: Skarmoutsou
authors.forename: Maurizio
authors.initials: M
authors.lastname: Marchini
authors.forename: Grazia
authors.initials: G
authors.lastname: Malaponte
authors.forename: Monica
authors.initials: M
authors.lastname: Caronni
authors.forename: Raffaella
authors.initials: R
authors.lastname: Scorza
authors.forename: Maria Clorinda
authors.initials: MC
authors.lastname: Mazzarino
mesh_terms: D001323:Autoantibodies / Q000276:immunology; D016022:Case-Control Studies; D002503:Centromere / Q000276:immunology; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012595:Scleroderma, Systemic / Q000235:genetics*
chemical_list: D001323:Autoantibodies; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors
keywords: Anticentromere antibodies; Autoimmunity; FOXP3 gene; Single nucleotide polymorphisms; Systemic sclerosis