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 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 language | English |
|---|---|
| Pages (from-to) | 109-113 |
| Number of pages | 5 |
| Journal | Immunology Letters |
| Volume | 152 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2013 |
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Keywords
- Anticentromere antibodies
- Autoimmunity
- FOXP3 gene
- Single nucleotide polymorphisms
- Systemic sclerosis
ASJC Scopus subject areas
- Immunology
- Immunology and Allergy
- Medicine(all)
Cite this
Genetic polymorphisms of FOXP3 in Italian patients with systemic sclerosis. / D'Amico, Fabio; Skarmoutsou, Evangelia; Marchini, Maurizio; Malaponte, Grazia; Caronni, Monica; Scorza, Raffaella; Mazzarino, Maria Clorinda.
In: Immunology Letters, Vol. 152, No. 2, 2013, p. 109-113.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic polymorphisms of FOXP3 in Italian patients with systemic sclerosis
AU - D'Amico, Fabio
AU - Skarmoutsou, Evangelia
AU - Marchini, Maurizio
AU - Malaponte, Grazia
AU - Caronni, Monica
AU - Scorza, Raffaella
AU - Mazzarino, Maria Clorinda
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - Anticentromere antibodies
KW - Autoimmunity
KW - FOXP3 gene
KW - Single nucleotide polymorphisms
KW - Systemic sclerosis
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U2 - 10.1016/j.imlet.2013.05.006
DO - 10.1016/j.imlet.2013.05.006
M3 - Article
C2 - 23707908
AN - SCOPUS:84879132270
VL - 152
SP - 109
EP - 113
JO - Immunology Letters
JF - Immunology Letters
SN - 0165-2478
IS - 2
ER -