title: Matrix metalloproteinase-9 genotypes and haplotypes are associated with multiple sclerosis and with the degree of disability of the disease.
abstract: Multiple sclerosis (MS) is an autoimmune disease causing severe neurological disability. This study was carried out in order to determine whether the MMP-9 C(-1562)T and (CA)(13-25) polymorphisms are associated with MS. A total of 165 patients (92 whites/73 mulattos) and 191 controls (96 whites/95 mulattos) were enrolled in the study. While no difference in C(-1562)T polymorphism was observed between MS and healthy subjects, (CA)(n) genotypes and alleles were associated with MS. Moreover, the haplotypes are not associated with MS but seem to be relevant to the clinical status of MS. Thus the (CA)(n) polymorphism may contribute to MS susceptibility, but C(-1562)T and (CA)(n) haplotypes may modulate disease severity.
authors.affiliation: Department of Pharmacology, Medicine and Rehabilitation of the Locomotor Apparatus, Medical School of Ribeirão Preto, University of São Paulo, 14049-900, Ribeirão Preto, SP, Brazil.
authors.forename: Karla S S
authors.initials: KS
authors.lastname: Fernandes
authors.forename: Doralina Guimaraes
authors.initials: DG
authors.lastname: Brum
authors.forename: Valeria Cristina
authors.initials: VC
authors.lastname: Sandrim
authors.forename: Carlos Tostes
authors.initials: CT
authors.lastname: Guerreiro
authors.forename: Amilton Antunes
authors.initials: AA
authors.lastname: Barreira
authors.forename: José Eduardo
authors.initials: JE
authors.lastname: Tanus-Santos
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D004185:Disability Evaluation; D006233:Persons with Disabilities; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index
chemical_list: D020780:Matrix Metalloproteinase 9