title: Progression of multiple sclerosis is associated with exon 1 CTLA-4 gene polymorphism.
abstract: OBJECTIVE
  Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system which is widely believed to have a T-cell-mediated etiology. The cytotoxic T-lymphocyte antigen-4 (CTLA-4) antigen molecule plays a key role in the downregulation of T-cell responses. To examine the genetic association of the CTLA-4 gene locus with MS, we analyzed an exon 1 (A49G) transition.
  
  
  METHODS
  One hundred and fifty-two MS patients and 154 controls were examined. The A/G transition was genotyped by a polymerase chain reaction followed by labeling with a SNaPshot kit and detection using a capillary genetic analyzer.
  
  
  RESULTS
  The genotype, allele and phenotype frequencies did not differ significantly between MS patients and controls. Those MS patients with AA and AG genotypes had 4.36 times greater risk of progressing from the relapsing-remitting to the secondary progressive form of the disease than those with the GG genotype.
  
  
  CONCLUSIONS
  The results of our study indicate that CTLA-4 (A49G) exon 1 polymorphism is associated with MS progression.
authors.affiliation: Department of Neurology, Wrocław Medical University, Poland. mbilinsk@dilnet.wroc.pl
authors.forename: M
authors.initials: M
authors.lastname: Bilińska
authors.forename: I
authors.initials: I
authors.lastname: Frydecka
authors.forename: L
authors.initials: L
authors.lastname: Noga
authors.forename: T
authors.initials: T
authors.lastname: Dobosz
authors.forename: M
authors.initials: M
authors.lastname: Zołedziewska
authors.forename: K
authors.initials: K
authors.lastname: Suwalska
authors.forename: A
authors.initials: A
authors.lastname: Tutak
authors.forename: A
authors.initials: A
authors.lastname: Pokryszko-Dragan
mesh_terms: D000328:Adult; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics* / Q000276:immunology; D060908:CTLA-4 Antigen; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008213:Lymphocyte Activation / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human