title: The C(-1562)T polymorphism of the MMP-9 gene and the risk of sporadic amyotrophic lateral sclerosis.
abstract: OBJECTIVE
  Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of multiple and poorly understood aetiopathogenesis. Genetic factors involved in the pathogenesis of sporadic ALS still remain unknown. A candidate gene might be matrix metalloproteinase-9 gene (MMP-9) - a member of the matrix metalloproteinase family capable of degrading elements of the extracellular matrix. Recent data suggest that MMP-9 may be involved in the pathophysiology of ALS. MMP-9 levels and activity are influenced by the -1562 C/T polymorphism of the MMP-9 gene. We have studied the association between the -1562 C/T polymorphism of the MMP-9 gene and the risk of sporadic ALS.
  
  
  METHODS
  We included 228 patients with a definite or probable diagnosis of sporadic ALS and 428 healthy controls matched for age and sex. The diagnosis of sporadic ALS was established according to El Escorial criteria. The polymorphism was studied by polymerase chain reaction (PCR) and restricted enzyme digestion.
  
  
  RESULTS
  Distribution of genotypes and alleles of the MMP-9 gene between sporadic ALS cases and controls did not differ significantly: C/C - 168 (73.7%) vs. 304 (71.0%), C/T - 53 (23.2%) vs. 118 (27.6%), T/T - 7 (3.1%) vs. 6 (1.4%), respectively and alleles: C - 389 (85.3%) vs. 726 (84.8%), T - 67 (14.7 %) vs. 130 (15.2%), respectively.
  
  
  CONCLUSIONS
  The polymorphism -1562 C/T of the MMP-9 gene is not associated with the risk of sporadic amyotrophic lateral sclerosis in the studied population of Polish patients.
authors.affiliation: Department of Neurology, Jagiellonian University Medical College, Kraków. dopartyka@wp.pl
authors.forename: Dorota
authors.initials: D
authors.lastname: Zawiślak
authors.forename: Anna
authors.initials: A
authors.lastname: Borratyńska
authors.forename: Barbara
authors.initials: B
authors.lastname: Tomik
authors.forename: Joanna
authors.initials: J
authors.lastname: Pera
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Gryz-Kurek
authors.forename: Andrzej
authors.initials: A
authors.lastname: Szczudlik
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020780:Matrix Metalloproteinase 9 / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012044:Regression Analysis
chemical_list: D020780:Matrix Metalloproteinase 9