title: Identification of three polymorphisms in the translated region of PLC-gamma1 and their investigation in lithium responsive bipolar disorder.
abstract: Recently, we have found an association between bipolar disorder patients who are excellent responders to lithium prophylaxis and a polymorphic marker located in the first intron of the phospholipase C-gamma1 gene (PLC-gamma1) [Turecki et al., 1998: Mol Psychiatry 3:534-538]. As this variant is not known to be functional, we searched for other markers within the coding region, using single-strand conformational polymorphism (SSCP) analysis. We have identified three polymorphic sites localized in three different exons of the PLC-gamma1 gene (exons 9, 26, 31). Variation studies of these potentially functional sites in a group of 133 bipolar patients with an excellent response to lithium prophylaxis and a comparison group of 99 healthy controls showed no difference in genotype distributions for exon 9 (chi-square = 1.41, df = 2, P = 0.49), exon 26 (chi-square = 2.26, df = 2, P = 0.13), or exon 31 (chi-square = 1.41, df = 2, P = 0.49). Similar results were observed for allele distributions. These results suggest that our previous findings were not the result of linkage disequilibrium with these variants.
authors.affiliation: Douglas Hospital Research Institute, Douglas Hospital, McGill University, Montreal, Canada.
authors.forename: N
authors.initials: N
authors.lastname: Ftouhi-Paquin
authors.forename: M
authors.initials: M
authors.lastname: Alda
authors.forename: P
authors.initials: P
authors.lastname: Grof
authors.forename: N
authors.initials: N
authors.lastname: Chretien
authors.forename: G
authors.initials: G
authors.lastname: Rouleau
authors.forename: G
authors.initials: G
authors.lastname: Turecki
mesh_terms: D001714:Bipolar Disorder / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons; D005838:Genotype; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008094:Lithium / Q000627:therapeutic use*; D016366:Open Reading Frames; D051966:Phospholipase C gamma; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D010738:Type C Phospholipases / Q000235:genetics*
chemical_list: D007527:Isoenzymes; D008094:Lithium; D010738:Type C Phospholipases; D051966:Phospholipase C gamma