title: Analysis of SYNJ1, a candidate gene for 21q22 linked bipolar disorder: a replication study.
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.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Division of Psychiatry Research, Albert Einstein College of Medicine, 1300 Morris Park Ave, Bronx, NY 10461, USA.
authors.forename: Pavla
authors.initials: P
authors.lastname: Stopkova
authors.forename: Jan
authors.initials: J
authors.lastname: Vevera
authors.forename: Ivo
authors.initials: I
authors.lastname: Paclt
authors.forename: Ilja
authors.initials: I
authors.lastname: Zukov
authors.forename: Herbert M
authors.initials: HM
authors.lastname: Lachman
mesh_terms: D000483:Alleles; D001714:Bipolar Disorder / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D018153:Czech Republic; D017931:DNA Primers / Q000235:genetics; D004268:DNA-Binding Proteins; D039721:Diagnostic and Statistical Manual of Mental Disorders; D015870:Gene Expression / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D051716:Replication Protein A; D013572:Synaptic Vesicles / Q000235:genetics; D014481:United States
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D009419:Nerve Tissue Proteins; C497167:RPA1 protein, human; D051716:Replication Protein A; C097702:synaptojanin; D010744:Phosphoric Monoester Hydrolases