Case-control association study of the close homologue of L1 (CHL1) gene and schizophrenia in the Chinese population

Chen, Qing-Ying; Chen, Qi; Gao, Feng; Lindpaintner, Klaus; Chen, Yi; Sun, Xiaodong; Chen, Zhengxiong; Gao, Zhe; Tang, Jisheng; He, Lin

doi:10.1016/j.schres.2004.06.001

Cited by 65 publications

(54 citation statements)

References 25 publications

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“…It is interesting to note that their associated SNPs were mostly located in the non-coding region of intron or untranslated regions of the gene except for CHL1 and CHGB, suggesting an indirect mechanism in effect for their functional influence of gene expression from the allele-specific susceptibility loci. In CHL1, a SZ-associated SNP (rs2272522) was found in exon 3 involving a Leu -Phe change of the protein, 19,20 whereas in CHGB, three SNPs (rs236152, rs236155 and rs6133278) were found, involving mis-sense changes of the protein, Ala-Gly, Arg-Gln and AspAsn, respectively 21,22 (Table 3). These susceptibility genes are involved in multiple critical cellular functions, which may be relevant to the The positive correlation of probability was calculated by a modified Fisher's exact test on a total of 760 schizophrenia risk hits against a total of 20 628 population hits.…”

Section: Resultsmentioning

confidence: 99%

An integrated genomic analysis of gene-function correlation on schizophrenia susceptibility genes

Chu

Liu

2010

J Hum Genet

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Schizophrenia is a highly complex inheritable disease characterized by numerous genetic susceptibility elements, each contributing a modest increase in risk for the disease. Although numerous linkage or association studies have identified a large set of schizophrenia-associated loci, many are controversial. In addition, only a small portion of these loci overlaps with the large cumulative pool of genes that have shown changes of expression in schizophrenia. Here, we applied a genomic gene-function approach to identify susceptibility loci that show direct effect on gene expression, leading to functional abnormalities in schizophrenia. We carried out an integrated analysis by cross-examination of the literature-based susceptibility loci with the schizophrenia-associated expression gene list obtained from our previous microarray study (Journal of Human Genetics (2009) 54: 665-75) using bioinformatic tools, followed by confirmation of gene expression changes using qPCR. We found nine genes (CHGB, SLC18A2, SLC25A27, ESD, C4A/C4B, TCP1, CHL1 and CTNNA2) demonstrate gene-function correlation involving: synapse and neurotransmission; energy metabolism and defense mechanisms; and molecular chaperone and cytoskeleton. Our findings further support the roles of these genes in genetic influence and functional consequences on the development of schizophrenia. It is interesting to note that four of the nine genes are located on chromosome 6, suggesting a special chromosomal vulnerability in schizophrenia.

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Section: Resultsmentioning

confidence: 99%

An integrated genomic analysis of gene-function correlation on schizophrenia susceptibility genes

Chu

Liu

2010

J Hum Genet

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“…CHL1 Ϫ/Ϫ mice display reduced novelty detection, impaired social behavior, and reduced working memory (48,49,52), which have been associated with some symptoms of schizophrenia in humans carrying missense polymorphisms in the CHL1 gene (50,51). Whether the association of CHL1 with lipid rafts and ␤II spectrin is important for synapse formation and function and whether disruption of this link contributes to the etiology of schizophrenia are intriguing questions deserving further investigation.…”

Section: Discussionmentioning

confidence: 99%

Lipid Raft-dependent Endocytosis of Close Homolog of Adhesion Molecule L1 (CHL1) Promotes Neuritogenesis

Tian

Leshchyns’ka

Welch

et al. 2012

Journal of Biological Chemistry

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Background: Cell adhesion molecule CHL1 plays a dual role by either promoting or inhibiting neuritogenesis. Results: Ligand-induced clustering of CHL1 at the cell surface induces lipid raft-dependent endocytosis of CHL1 and neuritogenesis. Conclusion: Ligand-induced remodeling of CHL1 adhesion promotes neurite outgrowth. Significance: High levels of CHL1 adhesion and inhibition of CHL1 endocytosis can interfere with neuronal development and/or regeneration.

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“…29,30 Further evidence implicating chromosome 3 in the susceptibility for the disorder comes from a positive association of affected individuals of the Han Chinese population with the cell adhesion molecule with homology to L1CAM (close homolog of L1) gene, which maps on 3p26 and seems to be involved in axonal growth and synaptic plasticity. 31 …”

Section: Chromosomementioning

confidence: 99%

The myelin-pathogenesis puzzle in schizophrenia: a literature review

2007

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Schizophrenia is a serious and disabling mental disorder with symptoms such as auditory hallucinations, disordered thinking and delusions, avolition, anhedonia, blunted affect and apathy. In this review article we seek to present the current scientific findings from linkage studies and susceptible genes and the pathophysiology of white matter in schizophrenia. The article has been reviewed in two parts. The first part deals with the linkage studies and susceptible genes in schizophrenia in order to have a clear-cut picture of the involvement of chromosomes and their genes in schizophrenia. The genetic linkage results seem to be replicated in some cases but in others are not. From these results, we cannot draw a fine map to a single locus or gene, leading to the conclusion that schizophrenia is not caused by a single factor/gene. In the second part of the article we present the oligodendrocyte-related genes that are associated with schizophrenia, as we hypothesize a potential role of oligodendrocyte-related genes in the pathology of the disorder.

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Case-control association study of the close homologue of L1 (CHL1) gene and schizophrenia in the Chinese population

Cited by 65 publications

References 25 publications

An integrated genomic analysis of gene-function correlation on schizophrenia susceptibility genes

An integrated genomic analysis of gene-function correlation on schizophrenia susceptibility genes

Lipid Raft-dependent Endocytosis of Close Homolog of Adhesion Molecule L1 (CHL1) Promotes Neuritogenesis

The myelin-pathogenesis puzzle in schizophrenia: a literature review

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