Serotonin transporter 5HTTLPR polymorphism and affective disorders: No evidence of association in a large European multicentre study

Julien Mendlewicz, Isabelle Massat, Daniel Souery, Jurgen Del-Favero, Lilijana Oruč, Markus M. Nöthen, Douglas Blackwood, Walter Muir, Sharon Battersby, Beny Lerer, Ronen H. Segman, Radka Kaneva, Alessandro Serretti, Roberta Lilli, Christian Lorenzi, Miro Jakovljevič, Sladana Ivezič, Marcella Rietschel, Vihra Milanova, Christine Van Broeckhoven

Research output: Contribution to journalArticlepeer-review


The available data from preclinical and pharmacological studies on the role of the serotonin transporter (5-HTT) support the hypothesis that a dysfunction in brain serotonergic system activity contributes to the vulnerability to affective disorders (AD). 5-HTT is the major site of serotonin reuptake into the presynaptic neuron, and it has been shown that the polymorphic repeat polymorphism in the 5-HTT promotor region (5-HTTLPR) may affect gene-transcription activity. 5-HTT maps to chromosome 17 at position 17q11.17-q12, and the 5-HTTLPR polymorphisms have been extensively investigated in AD with conflicting results. The present study tested the genetic contribution of the 5-HTTLPR polymorphism in a large European multicenter case-control sample, including 539 unipolar (UPAD), 572 bipolar patients (BPAD), and 821 controls (C). Our European collaboration has led to efforts to optimize a methodology that attenuates some of the major limitations of the case-control association approach. No association was found with primary psychiatric diagnosis (UPAD and BPAD) and with phenotypic traits (family history of AD, suicidal attempt, and presence of psychotic features). Our negative findings are not attributable to the lack of statistical power, and may contribute to clarify the role of 5-HTTLPR polymorphism in AD.

Original languageEnglish
Pages (from-to)377-382
Number of pages6
JournalEuropean Journal of Human Genetics
Issue number5
Publication statusPublished - May 2004


  • 5-HTTLPR polymorphism
  • Association study
  • Bipolar affective disorders
  • Candidate genes
  • Serotonin neurotransmission
  • SLC6A4 gene
  • Unipolar affective disorders

ASJC Scopus subject areas

  • Genetics(clinical)


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