title: CTLA4 exon 1 and promoter polymorphisms in patients with multiple sclerosis.
abstract: OBJECTIVE
  The polymorphisms of exon 1 (+49 A/G) and promoter regions (-1722 T/C, -1661 A/G and -318 C/T)of cytotoxic T lymphocyte antigen 4 (CTLA4) and also haplotypes constructed from mentioned loci were investigated amongst 153 Iranian patients with definite multiple sclerosis (MS) and 190 healthy controls.
  
  
  METHODS
  The polymorphisms were genotyped by PCR-restriction fragment length polymorphisms and PCR-amplification refractory mutation system. The 4-locus haplotypes were estimated by Arlequin software (University of Berne, Berne, Switzerland).
  
  
  RESULTS
  Preliminary results showed significant increase of +49 G allele and -1661 AG genotype, as well as TGCA haplotype among patients than controls (P < 0.036, P = 0.009 and P < 0.010, respectively). The distribution of -1722 T/C, -1661 A/G, -318 C/T and +49 A/G (TACA) haplotype, from the contrary, was observed to be significantly increased among controls (P < 0.001).
  
  
  CONCLUSIONS
  After Bonferroni correction, the results provide preliminary evidence that CTLA4 genetic variation at -1661 locus may render Iranian individuals to be more susceptible to MS, whereas harboring TACA haplotype might be protective.
authors.affiliation: Department of Neurology, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: G
authors.initials: G
authors.lastname: Yousefipour
authors.forename: N
authors.initials: N
authors.lastname: Erfani
authors.forename: M
authors.initials: M
authors.lastname: Momtahan
authors.forename: H
authors.initials: H
authors.lastname: Moghaddasi
authors.forename: A
authors.initials: A
authors.lastname: Ghaderi
mesh_terms: D000328:Adult; D000483:Alleles; D015703:Antigens, CD / Q000235:genetics*; D060908:CTLA-4 Antigen; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007492:Iran; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D018579:Patient Selection; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic
chemical_list: D015703:Antigens, CD; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human