Association study and mutational screening of SYNGR1 as a candidate susceptibility gene for schizophrenia.

Paraskevas Iatropoulos, Rita Gardella, Paolo Valsecchi, Chiara Magri, Chiara Ratti, Damiano Podavini, Giuseppe Rossi, Massimo Gennarelli, Emilio Sacchetti, Sergio Barlati

Research output: Contribution to journalArticlepeer-review

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. CONCLUSION: 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.

Original languageEnglish
Pages (from-to)237-243
Number of pages7
JournalPsychiatric Genetics
Volume19
Issue number5
Publication statusPublished - Oct 2009

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Genetics
  • Biological Psychiatry

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