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Serotonin transporter gene and schizophrenia: evidence for association/linkage disequilibrium in families with affected siblings

Molecular Psychiatry volume 5, pages 91–95 (2000)Cite this article

Abstract

The serotonergic (5-HT) system has been implicated in the etiopathogenesis of psychoses. Since the 5-HT transporter plays an important role in regulation of 5-HT transmission, its gene can be considered as a candidate for vulnerability to psychiatric disorders. Two polymorphic sites of the 5-HT transporter gene—5-HTTLPR, a VNTR in the 5′ regulatory region, and a VNTR in the second intron—were studied in a sample of 61 families with schizophrenia for transmission disequilibrium. Each family contained at least two siblings affected with schizophrenia or schizoaffective disorder (mainly schizophrenic). One hundred and thirty-nine affected offspring with parental information for genotyping, were available for analysis. No preferential transmission of either short or long alleles of the promoter polymorphism was observed. However, a transmission distortion was detected for alleles of the intronic VNTR polymorphism (χ2TDT max =14.33; P = 0.0002; corrected P value = 0.0003) resulting in more frequent than expected transmission of the 12 repeat allele. This finding adds additional evidence to the idea that the serotonergic system may be involved in development of psychoses.

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Acknowledgements

We wish to express our gratitude to all patients and their family members—without their cooperation this work would not have been possible. The work has been supported by grants of the Deutsche Forschungsgemeinschaft, Sonderforschungsbereich 400 (to MA, MK, WM, DBW). The scientific visit of DH was supported by a grant from Ministry of Science and Technology of the Republic of Croatia.

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Authors and Affiliations

  1. Laboratory of Neurochemistry and Molecular Neurobiology, Ruder Boskovic Institute and Croatian Institute for Brain Research, Zagreb, HR-10 000, Croatia

    D Hranilovic & B Jernej

  2. Department of Psychiatry, University of Bonn, Bonn, D-53105, Germany

    S G Schwab, M Rietschel, D Lichtermann, W Maier & D B Wildenauer

  3. Department of Medical Statistics, University of Bonn, Bonn, D-53105, Germany

    M Knapp

  4. Biological Psychiatry Unit, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel

    B Lerer & K Kanyas

  5. Mental State Hospital, Haar, D-85529, Germany

    M Albus & M Borrmann

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  1. D Hranilovic
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  2. S G Schwab
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Correspondence to D B Wildenauer.

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Hranilovic, D., Schwab, S., Jernej, B. et al. Serotonin transporter gene and schizophrenia: evidence for association/linkage disequilibrium in families with affected siblings. Mol Psychiatry 5, 91–95 (2000). https://doi.org/10.1038/sj.mp.4000599

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