title: An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia.
abstract: Morphological alterations in the brains of schizophrenia patients suggest that neurodevelopmental dysfunction is involved in the etiology of the disease.(1) Such dysfunction may be due to functional alterations of cell adhesion molecules, which play important roles in cell migration, axonal growth, fasciculation, synaptogenesis, and synaptic remodeling. We screened for mutations in the coding region of the close homologue to L1 gene (CHL1), which is located on human chromosome 3p26, in 24 Japanese patients with schizophrenia. A missense polymorphism (Leu17Phe) in the signal peptide region was identified. A case-control comparison revealed significantly higher frequencies of the Leu/Leu genotype (P = 0.004) and the Leu allele (P = 0.006) in 282 Japanese schizophrenic patients than in 229 Japanese control subjects. The estimated odds ratio for schizophrenia was 1.83 (95% CI, 1.28-2.26) for the Leu/Leu genotype compared with the other genotypes. An association between this CHL1 gene polymorphism and schizophrenia supports the notion that cell adhesion molecules are involved in the etiology of schizophrenia.
authors: Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, 305-8575, Ibaraki, Japan.
authors: K
authors: K
authors: Sakurai
authors: O
authors: O
authors: Migita
authors: M
authors: M
authors: Toru
authors: T
authors: T
authors: Arinami
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D015815:Cell Adhesion Molecules; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D020125:Mutation, Missense; D039842:Neural Cell Adhesion Molecule L1; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D011506:Proteins; D012559:Schizophrenia / Q000235:genetics*
chemical_list: C490650:CHL1 protein, human; D015815:Cell Adhesion Molecules; D008565:Membrane Proteins; D039842:Neural Cell Adhesion Molecule L1; D019006:Neural Cell Adhesion Molecules; D011506:Proteins