Liakouli V et al. – The single-nucleotide polymorphism (SNP) at position -670 in the FAS gene promoter (FAS-670G>A) is significantly associated with susceptibility to systemic sclerosis (SSc), suggesting a role for a genetic control of apoptosis in the pathogenesis of the disease. Methods
Study to evaluate the role of the SNP in the FAS gene promoter (FAS-670G>A) in influencing the susceptibility, the clinical features and the severity of SSc
350 Italian Caucasian SSc pts: 259 with limited cutaneous SSc (lcSSc) and 91 with diffuse cutaneous SSc (dcSSc) and 232 healthy subjects were studied
Pts were assessed for the presence of autoantibodies, interstitial lung disease (ILD), pulmonary arterial hypertension and scleroderma renal crisis
FAS-670G>A SNP was genotyped by PCR-restriction fragment length polymorphism
Serum levels of soluble FAS were analysed by ELISA
Results
A difference in FAS-670 genotype distribution was observed between SSc pts and healthy subjects
The frequency of FAS-670A allele was higher in SSc vs controls
No difference in lcSSc and dcSSc, although a higher frequency of FAS-670A allele in dcSSc was found
FAS-670AA genotype significantly influenced the predisposition to SSc, and to both lcSSc and dcSSc
FAS-670A allele frequency was higher, although not significantly, in anti-Scl-70 antibody-positive dcSSc and in ILD dcSSc
Soluble FAS was higher in pts and controls carrying FAS-670AA genotype vs those carrying FAS-670GG genotype
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