title: Study of five novel non-synonymous polymorphisms in human brain-expressed genes in a Colombian sample.
abstract: BACKGROUND
  Non-synonymous single nucleotide polymorphisms (nsSNPs) in brain-expressed genes represent interesting candidates for genetic research in neuropsychiatric disorders.
  
  
  OBJECTIVE
  To study novel nsSNPs in brain-expressed genes in a sample of Colombian subjects.
  
  
  METHODS
  We applied an approach based on in silico mining of available genomic data to identify and select novel nsSNPs in brain-expressed genes. We developed novel genotyping assays, based in allele-specific PCR methods, for these nsSNPs and genotyped them in 171 Colombian subjects.
  
  
  RESULTS
  Five common nsSNPs (rs6855837; p.Leu395Ile, rs2305160; p.Thr394Ala, rs10503929; p.Met289Thr, rs2270641; p.Thr4Pro and rs3822659; p.Ser735Ala) were studied, located in the CLOCK, NPAS2, NRG1, SLC18A1 and WWC1 genes. We reported allele and genotype frequencies in a sample of South American healthy subjects. There is previous experimental evidence, arising from genome-wide expression and association studies, for the involvement of these genes in several neuropsychiatric disorders and endophenotypes, such as schizophrenia, mood disorders or memory performance.
  
  
  CONCLUSIONS
  Frequencies for these nsSNPSs in the Colombian samples varied in comparison to different HapMap populations. Future study of these nsSNPs in brain-expressed genes, a synaptogenomics approach, will be important for a better understanding of neuropsychiatric diseases and endophenotypes in different populations.
authors.affiliation: Laboratory of NeuroPsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño. Bogotá, Colombia.
authors.forename: Diego A
authors.initials: DA
authors.lastname: Ojeda
authors.affiliation: Laboratory of NeuroPsychiatric Genetics, School of Medicine, Universidad Antonio Nariño. Bogotá, Colombia.
authors.forename: Diego A
authors.initials: DA
authors.lastname: Forero
keywords: Candidate genes; Molecular genetics; Neurogenetics; Single nucleotide polymorphisms