title: Association study and mutational screening of SYNGR1 as a candidate susceptibility gene for schizophrenia.
abstract: OBJECTIVE
  Synaptogyrin 1 (SYNGR1) is a transmembrane protein of neurotransmitter-containing vesicle. Recently, suggestive association between SYNGR1 intragenic polymorphisms and schizophrenia has been reported in the Indian population. Furthermore, some rare nucleotide changes with a potential pathogenic effect have been found in Indian and Chinese schizophrenia patients. In this study, we have performed an association study and a resequencing analysis in an Italian sample.
  
  
  METHODS
  Eight polymorphisms of the SYNGR1 gene were typed in a case-control sample consisting of 274 patients and 335 controls. In parallel, a mutational screening covering all SYNGR1 exons was conducted.
  
  
  RESULTS
  Evidence of association has been found for rs715505 (P = 0.028), a marker already reported to be associated with the disease. Resequencing analysis revealed two novel polymorphisms and several rare variants (13 of 16 as new variants), some of which might have relevance for gene expression and function.
  
  
  CONCLUSIONS
  The results of our association study support a contribution of SYNGR1 to schizophrenia susceptibility. In addition, the resequencing analysis evidenced mutations with a potential functional role at the mRNA and/or protein level. Of particular interest is the p.isoc:S26G missense mutation identified in six patients (0.011) and three controls (0.004) which might be involved in the elimination of a potential protein kinase C phosphorylation site.
authors.affiliation: Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Brescia University School of Medicine, Brescia, Italy.
authors.forename: Paraskevas
authors.initials: P
authors.lastname: Iatropoulos
authors.forename: Rita
authors.initials: R
authors.lastname: Gardella
authors.forename: Paolo
authors.initials: P
authors.lastname: Valsecchi
authors.forename: Chiara
authors.initials: C
authors.lastname: Magri
authors.forename: Chiara
authors.initials: C
authors.lastname: Ratti
authors.forename: Damiano
authors.initials: D
authors.lastname: Podavini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Rossi
authors.forename: Massimo
authors.initials: M
authors.lastname: Gennarelli
authors.forename: Emilio
authors.initials: E
authors.lastname: Sacchetti
authors.forename: Sergio
authors.initials: S
authors.lastname: Barlati
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D062805:Synaptogyrins
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C507923:SYNGR1 protein, human; D062805:Synaptogyrins