Association study between genetic variants at the PIP5K2A gene locus and schizophrenia and bipolar affective disorder

Rami Abou Jamra, Katrin Klein, Angela Wolf Villela, Tim Becker, Thomas G. Schulze, Christine Schmael, Monika Deschner, Norman Klopp, Thomas Illig, Peter Propping, Sven Cichon, Marcella Rietschel, Markus M. Nöthen, Johannes Schumacher

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Results from molecular and pharmacological studies point to involvement of the gene coding for the phosphatidylinositol-4-phosphate 5-kinase type II-alpha (PIP5K2A) in the development of schizophrenia and bipolar affective disorder (BPAD). The PIP5K2A gene locus, which is located on chromosomal region 10p12, has been implicated in the development of both disorders by independent linkage and association studies. On a cellular level, PIP5K2A is an enzyme component of the metabolism of inositol phosphate, which has been considered a potential target for the therapeutic action of lithium in BPAD patients. Given that the PIP5K2A gene is a promising candidate for the development of both disorders, we performed an association study between genetic variants at the PIP5K2A locus and 268 patients with schizophrenia, 260 patients with BPAD and 325 ethnically matched healthy controls. We failed to detect association to either disorder using PIP5K2A gene variants through single-marker and haplotype analysis. Therefore, our data does not support an involvement of the PIP5K2A locus in the etiology of either schizophrenia or BPAD in the German population.

Original languageEnglish (US)
Pages (from-to)663-665
Number of pages3
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number6
StatePublished - Sep 5 2006
Externally publishedYes


  • 10p12
  • Case-control
  • German
  • Phosphatidylinositol-4-phosphate 5-kinase type II-alpha

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


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