Polymorphisms in the 13q33.2 gene G72/G30 are associated with childhood-onset schizophrenia and psychosis not otherwise specified

Anjené M. Addington, Michele Gornick, Alexandra L. Sporn, Nitin Gogtay, Deanna Greenstein, Marge Lenane, Peter Gochman, Natalie Baker, Rishi Balkissoon, Radha Krishna Vakkalanka, Daniel R. Weinberger, Richard E. Straub, Judith L. Rapoport

Research output: Contribution to journalArticlepeer-review

129 Scopus citations


Background Childhood-onset schizophrenia (COS), defined as onset of psychotic symptoms by age 12 years, is a rare and severe form of the disorder that seems to be clinically and neurobiologically continuous with the adult disorder. Methods We studied a rare cohort consisting of 98 probands; 71 of these probands received a DSM-defined diagnosis of schizophrenia, and the remaining 27 were diagnosed as psychosis not otherwise specified (NOS) (upon 2-6 year follow-up, 13 have subsequently developed bipolar disorder). Two overlapping genes, G72 and G30 on 13q33.2, were identified through linkage-disequilibrium-based positional cloning. Single nucleotide polymorphisms (SNPs) at the G72/G30 locus were independently associated with both bipolar illness and schizophrenia. We analyzed SNPs at this locus with a family-based transmission disequilibrium test (TDT) and haplotype analyses for the discrete trait, as well as quantitative TDT for intermediate phenotypes, using the 88 probands (including COS and psychosis-NOS) with parental participation. Results We observed significant pairwise and haplotype associations between SNPs at the G72/G30 locus and psychotic illness. Furthermore, these markers showed associations with scores on a premorbid phenotype measured by the Autism Screening Questionnaire, and with age of onset. Conclusions These findings, although limited by potential referral bias, confirm and strengthen previous reports that G72/G30 is a susceptibility locus both for schizophrenia and bipolar disorder.

Original languageEnglish (US)
Pages (from-to)976-980
Number of pages5
JournalBiological psychiatry
Issue number10
StatePublished - May 15 2004
Externally publishedYes


  • Candidate gene
  • children
  • genetic association
  • quantitative transmission disequilibrium test
  • schizophrenia
  • transmission disequilibrium test

ASJC Scopus subject areas

  • Biological Psychiatry


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