Genetic polymorphisms of FOXP3 in Italian patients with systemic sclerosis
| Autor: | Monica Caronni, Maurizio Marchini, Grazia Malaponte, Raffaella Scorza, Fabio D’Amico, Evangelia Skarmoutsou, Maria Clorinda Mazzarino |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Genotype Anticentromere antibodies Centromere Immunology Autoimmunity Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Gene Frequency Humans Immunology and Allergy SNP Genetic Predisposition to Disease Allele Genotyping Allele frequency Genetic Association Studies Autoantibodies Scleroderma Systemic Case-control study Forkhead Transcription Factors Single nucleotide polymorphisms Middle Aged FOXP3 gene Genotype frequency Phenotype Italy Case-Control Studies Systemic sclerosis Female |
| Zdroj: | Immunology Letters. 152:109-113 |
| ISSN: | 0165-2478 |
| DOI: | 10.1016/j.imlet.2013.05.006 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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