title: Genetic analysis of the (CTG)n NOTCH4 polymorphism in 65 multiplex bipolar pedigrees.
abstract: A strong genetic association between the NOTCH4 locus on chromosome 6 and schizophrenia was recently reported. Based on the data suggesting overlapping susceptibility for schizophrenia and bipolar disorder, we genotyped the polymorphic (CTG)n encoding polyleucine repeat in exon 1 of NOTCH4 in 65 pedigrees ascertained for a genetic linkage study of bipolar disorder. In addition, we analyzed a subset of our pedigrees with psychotic features at this locus. We failed to find any association between the (CTG)n NOTCH4 polymorphism and either the bipolar or the psychotic bipolar phenotype in our 65 pedigrees.
authors.affiliation: George Browne Genetics Laboratory, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Public Health, Baltimore, Maryland, USA.
authors.forename: T
authors.initials: T
authors.lastname: Swift-Scanlan
authors.forename: T-H
authors.initials: TH
authors.lastname: Lan
authors.forename: M D
authors.initials: MD
authors.lastname: Fallin
authors.forename: J M
authors.initials: JM
authors.lastname: Coughlin
authors.forename: J B
authors.initials: JB
authors.lastname: Potash
authors.forename: J R
authors.initials: JR
authors.lastname: DePaulo
authors.forename: M G
authors.initials: MG
authors.lastname: McInnis
mesh_terms: D001483:Base Sequence; D001714:Bipolar Disorder / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008285:Major Histocompatibility Complex; D010455:Peptides; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000074562:Receptor, Notch4; D011956:Receptors, Cell Surface; D051880:Receptors, Notch; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: C106075:NOTCH4 protein, human; D010455:Peptides; D011518:Proto-Oncogene Proteins; D000074562:Receptor, Notch4; D011956:Receptors, Cell Surface; D051880:Receptors, Notch; C027819:polyleucine