Association of TIMP-1 +372 SNP with digital ulcer manifestation in female systemic sclerosis patients

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

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Abstract

A candidate gene for TIMP-1 gene located on the X-chromosome (rs4898) was selected for a control case study to investigate a possible association of this SNP with the susceptibility to systemic sclerosis and its digit ulcer manifestation. A total of 461 individuals of Italian Caucasian origin (228 SSc patients and 233 healthy control subjects) were genotyped for TIMP-1 +372 T/C single nucleotide polymorphism rs4898. Subgroups were analyzed according to the presence or absence of digital ulcers. The CC genotype and C allele frequencies were significantly lower in female SSc patients than in controls (OR 0.53, CI 0.29-0.96, p=0.03 and OR 0.72, CI 0.53-0.98 p=0.04, respectively). CC genotypes frequency was lower also in female patients with ulcers than those without ulcers (OR 0.37, CI 0.14-1.00, p=0.03). Furthermore, CC genotype and C allele frequencies were lower also in female patients with ulcers in comparison to female healthy control subjects (OR 0.27, CI 0.10-0.70, p=0.004; OR 0.60, CI 0.40-0.89, p=0.01, respectively). The TIMP-1 rs4898 polymorphism may play a protective role in the susceptibility to SSC in females, and in particular to digital ulcer formation.

Original languageEnglish
Pages (from-to)950-953
Number of pages4
JournalHuman Immunology
Volume73
Issue number9
DOIs
Publication statusPublished - Sep 2012

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Tissue Inhibitor of Metalloproteinase-1
Systemic Scleroderma
Ulcer
Single Nucleotide Polymorphism
Genotype
Gene Frequency
Healthy Volunteers
X Chromosome
Genes
Case-Control Studies

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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Association of TIMP-1 +372 SNP with digital ulcer manifestation in female systemic sclerosis patients. / Skarmoutsou, Evangelia; D'Amico, Fabio; Marchini, Maurizio; Malaponte, Grazia; Scorza, Raffaella; Mazzarino, Maria Clorinda.

In: Human Immunology, Vol. 73, No. 9, 09.2012, p. 950-953.

Research output: Contribution to journalArticle

Skarmoutsou, Evangelia ; D'Amico, Fabio ; Marchini, Maurizio ; Malaponte, Grazia ; Scorza, Raffaella ; Mazzarino, Maria Clorinda. / Association of TIMP-1 +372 SNP with digital ulcer manifestation in female systemic sclerosis patients. In: Human Immunology. 2012 ; Vol. 73, No. 9. pp. 950-953.
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