Analysis of SYNJ1, a candidate gene for 21q22 linked bipolar disorder: A replication study

Pavla Stopkova, Jan Vevera, Ivo Paclt, Ilja Zukov, Herbert M. Lachman

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

Linkage analysis has shown that chromosome 21q22 may contain a candidate gene for bipolar disorder (BPD). One potential 21q22 candidate gene we previously analyzed is SYNJ1, which encodes synaptojanin 1, an inositol 5-phosphatase. Previous mutation screening of SYNJ1 identified three rare functional variants, one of which is a polymorphic variant near the intron 12-oxon 12 border. The rare variants were found only in a total of four BPD patients and no controls, and a trend toward significance was found for the intron 12 polymorphism. In an analysis of a new set of 84 bipolar patients, none of the rare variants were detected. There was an increase in allele 2 for the intron 12 polymorphism, similar to our original study, but the result was not significant. The combined data from both studies continue to show a trend toward significance for allele 2 homozygotes in BPD.

Original languageEnglish (US)
Pages (from-to)157-161
Number of pages5
JournalPsychiatry Research
Volume127
Issue number1-2
DOIs
StatePublished - Jun 30 2004

Keywords

  • Chromosome 21
  • Phosphoinositides
  • Polymorphism
  • Synaptic vesicle function

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry

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