title: Polymorphisms of RPS6KB1 and CD86 associates with susceptibility to multiple sclerosis in Iranian population.
abstract: OBJECTIVE
  Multiple sclerosis (MS) is the most prevalent disorder of nervous system inflammation which involves demyelination of spinal cord; this process depends on both environmental and genetic susceptibility factors. In the present study, we examined the association between two SNPs in RPS6KB1 (rs180515) and CD86 (rs9282641) with MS in Iranian population. RPS6KB1gene encodes p70S6K1 protein which plays a key role in mTOR signaling pathway, while CD86 gene codes a membrane protein type I which belongs to immunoglobulin super family act on co-stimulation signaling pathway.
  
  
  METHODS
  In this case-control study 130 patients with MS and 128 matched healthy controls were enrolled, genomic DNA was isolated and genotyping was performed using mismatched PCR-RFLP. The results were finally analyzed using SPSS.
  
  
  RESULTS
  Our results showed significant difference in allelic frequency of SNP rs180515 among cases and controls (P = 0.004). For this variation, AA genotype was shown to have protective effect (P = 0.016 and OR = 0.6), while GG genotype was a susceptive genotype to MS (P = 0.04 and OR = 2.2). Allelic frequency of SNP rs9282641 also showed significant difference between cases and controls (P = 0.006). For this SNP, AG genotype had predisposing effect (P = 0.04, OR = 2.3), and GG genotype showed protective (P = 0.01, OR = 0.411).
  
  
  CONCLUSIONS
  We successfully replicated the association of two novel SNPs introduced by a GWAS study, and MS in the Iranian population. This result can open ways for better understanding the mechanisms involved in MS.
authors.affiliation: a Department of Medical Genetics, School of Medicine , Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Rasoul
authors.initials: R
authors.lastname: Abdollah Zadeh
authors.affiliation: b Department of Clinical Biochemistry, School of Medicine , Kermanshah University of Medical Sciences , Kermanshsh , Iran.
authors.forename: Nazanin
authors.initials: N
authors.lastname: Jalilian
authors.affiliation: c Department of Neurology, Sina Hospital , Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Sahraian
authors.affiliation: a Department of Medical Genetics, School of Medicine , Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Zeinab
authors.initials: Z
authors.lastname: Kasraian
authors.affiliation: a Department of Medical Genetics, School of Medicine , Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Noori-Daloii
mesh_terms: D000328:Adult; D051940:B7-2 Antigen / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007492:Iran; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D038762:Ribosomal Protein S6 Kinases, 70-kDa / Q000235:genetics*
chemical_list: D051940:B7-2 Antigen; C497964:CD86 protein, human; D038762:Ribosomal Protein S6 Kinases, 70-kDa; C448901:ribosomal protein S6 kinase, 70kD, polypeptide 1
keywords: CD86 polymorphism; MS; PCR- RFLP; RPS6KB1 polymorphism; multiple sclerosis