title: Analysis of matrix metalloproteinase-9 gene polymorphism -1562 C/T in patients suffering from systemic sclerosis with and without ulcers.
abstract: The objective of this study was to determine whether the matrix metalloproteinase-9 (MMP-9) rs3918242 single nucleotide polymorphism may confer susceptibility to systemic sclerosis (SSc) with and without ulcers in an Italian Caucasian population. The MMP-9 rs3918242 functional polymorphism was genotyped in 461 subjects of Italian Caucasian origin: 228 patients with SSc (92 with and 136 without ulcers) and 233 unrelated healthy individuals. The SNP under study was in Hardy-Weinberg equilibrium in the control population. Genotype and allele distributions between SSc patients, with or without ulcers, were not statistically significant (p>0.05). A significant increase of the genotype C/T was observed in male SSc patients without ulcers when compared to patients with ulcers (P=0.04). The MMP-9 rs3918242 functional polymorphism is not associated with susceptibility to SSc. However, the presence of the polymorphism may have a protective effect on the development of ulcers in SSc male patients.
authors: Department of Biomedical Sciences, University of Catania, via Androne 83, 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: Franca
authors: F
authors: Stivala
authors: Grazia
authors: G
authors: Malaponte
authors: Raffaella
authors: R
authors: Scorza
authors: Maria Clorinda
authors: MC
authors: Mazzarino
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012595:Scleroderma, Systemic / Q000150:complications / Q000235:genetics*; D014456:Ulcer / Q000209:etiology / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D020780:Matrix Metalloproteinase 9