title: Association of TIMP-1 +372 SNP with digital ulcer manifestation in female systemic sclerosis patients.
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.
authors: Department of Bio-medical Sciences, University of Catania, via Androne 83, I-95124 Catania, Italy. eskarmoutsou@gmail.com
authors: Evangelia
authors: E
authors: Skarmoutsou
authors: Fabio
authors: F
authors: D'Amico
authors: Maurizio
authors: M
authors: Marchini
authors: Grazia
authors: G
authors: Malaponte
authors: Raffaella
authors: R
authors: Scorza
authors: Maria Clorinda
authors: MC
authors: Mazzarino
mesh_terms: D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012595:Scleroderma, Systemic / Q000150:complications* / Q000235:genetics*; D012737:Sex Factors; D012883:Skin Ulcer / Q000209:etiology*; D019715:Tissue Inhibitor of Metalloproteinase-1 / Q000235:genetics*
chemical_list: D019715:Tissue Inhibitor of Metalloproteinase-1