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 journalArticle

22 Citations (Scopus)

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

Fingerprint

Bipolar Disorder
Introns
Alleles
Genes
Homozygote
Chromosomes
Mutation

Keywords

  • Chromosome 21
  • Phosphoinositides
  • Polymorphism
  • Synaptic vesicle function

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry
  • Psychology(all)

Cite this

Analysis of SYNJ1, a candidate gene for 21q22 linked bipolar disorder : A replication study. / Stopkova, Pavla; Vevera, Jan; Paclt, Ivo; Zukov, Ilja; Lachman, Herbert M.

In: Psychiatry Research, Vol. 127, No. 1-2, 30.06.2004, p. 157-161.

Research output: Contribution to journalArticle

Stopkova, Pavla ; Vevera, Jan ; Paclt, Ivo ; Zukov, Ilja ; Lachman, Herbert M. / Analysis of SYNJ1, a candidate gene for 21q22 linked bipolar disorder : A replication study. In: Psychiatry Research. 2004 ; Vol. 127, No. 1-2. pp. 157-161.
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