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Analysis of institutional authors

Roig B.AuthorMartorell L.AuthorValero JAuthorLabad AAuthorVilella ECorresponding Author

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Article

The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia

Publicated to:Molecular Psychiatry. 12 (9): 833-841 - 2007-09-01 12(9), DOI: 10.1038/sj.mp.4001995

Authors: Roig, B; Virgos, C; Franco, N; Martorell, L; Valero, J; Costas, J; Carracedo, A; Labad, A; Vilella, E

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Abstract

Evidence suggests that myelin alterations could predispose to schizophrenia. Reduced expression of several myelin genes has been observed in schizophrenia patients. Recently, we identified the discoidin domain receptor 1 (DDR1; located at human chromosome 6p21.3) as a myelin gene in the mouse model and in a human oligodendroglial cell line. In the present study we screened for single nucleotide polymorphisms (SNPs) in the DNA from 100 schizophrenia patients. We identified a novel mutation within exon 10 that produces the amino-acid substitution N502S in the a-d isoforms, and M475V in the e isoform. However the frequency of the mutation (2%) was similar in schizophrenia patients and in control subjects. In a case-control assessment with 389 schizophrenic patients and 615 controls, we identified one SNP (SNP9, rs1049623) associated with schizophrenia (odds ratio=1.44, 95% confidence interval: 1.15-1.79, adjusted P=0.0016). This association was confirmed in haplotype analysis; the SNPs 9-10-11 (rs1049623, rs2267641 and rs2239518) haplotype remaining significant even after adjustment for multiple testing (adjusted P=0.0136). Of note was a strong gender dependence in the association, that is, statistical significance restricted to men (adjusted P-value=0.0002). Regression analysis of DDR1 mRNA expression in peripheral blood lymphocytes from schizophrenia patients showed that the presence of the G allele significantly decreased the relative number of mRNA copies in a dose-dependent manner (P=0.003). These data suggest that the risk haplotype tags a cis-acting variant involved in the transcription regulation system of the gene. In conclusion, we propose the DDR1 as a new susceptibility gene for schizophrenia. © 2007 Nature Publishing Group All rights reserved.

Keywords

AdultAgedAged, 80 and overAlleleAmino acidAmino acid substitutionArticleAsparagineAssociationCase control studyChi-square distributionConcentration (parameters)Confidence intervalControl groupControlled studyDdr1DiscoidinDiscoidin domain receptor 1DnaDna mutational analysisExonExonsFemaleGenderGene frequencyGene mutationGenetic predisposition to diseaseGenetic riskGenetic screeningGenetic susceptibilityGenetic variabilityGenotypeHaplotypeHumanHumansIsoformIsoproteinMajor clinical studyMaleMessenger rnaMethionineMiddle agedMyelinPeripheral lymphocytePolymorphism, single nucleotidePriority journalReceptor protein-tyrosine kinasesRegression analysisReverse transcriptase polymerase chain reactionSchizophreniaSerineSingle nucleotide polymorphismStatistical significanceTranscription regulationUnclassified drugValine

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Molecular Psychiatry due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2007, it was in position 2/94, thus managing to position itself as a Q1 (Primer Cuartil), in the category Psychiatry.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 4.73, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions May 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-05-27, the following number of citations:

  • WoS: 49
  • Scopus: 48
  • Europe PMC: 28
  • OpenCitations: 50

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-05-27:

  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 52 (PlumX).

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: United States of America.

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (Roig Bourgine, Barbara) and Last Author (Vilella Cuadrada, Elisabet).

the authors responsible for correspondence tasks have been Virgos C and Vilella Cuadrada, Elisabet.