Family-based association study of 5-HTTLPR, TPH, MAO-A, and DRD4 polymorphisms in mood disorders

Alessandro Serretti, Silvano Cristina, Roberta Lilli, Cristina Cusin, Enrico Lattuada, Cristina Lorenzi, Barbara Corradi, Gaetano Grieco, Alfredo Costa, Filippo Santorelli, Francesco Barale, Giuseppe Nappi, Enrico Smeraldi

Research output: Contribution to journalArticlepeer-review


Variants of the functional polymorphism in the serotonin transporter (upstream regulatory region: 5-HTTLPR), the tryptophan hydroxylase (TPH), the monoamine oxidase A (MAO-A), and the dopamine receptor D4 (DRD4) genes have all been associated with mood disorders. The aim of this study was to test those hypotheses by using a family-based association approach. Both diagnoses and psychopathology were used for phenotype definitions. A total of 134 nuclear families with mood disorders, with probands affected by bipolar (n = 103) or major depressive (n = 58) disorders, were included in the study. All subjects were typed for the above-mentioned gene variants using polymerase chain reaction (PCR) technique. No significant transmission disequilibrium was found in the overall sample for any polymorphism. A separate analysis of bipolar subjects only, or the use of continuous psychopathologic traits as affectation status did not influence the observed results. Our study did not support the involvement of 5-HTTLPR, TPH, MAO-A, or DRD4 polymorphisms in mood disorders.

Original languageEnglish
Pages (from-to)361-369
Number of pages9
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number4
Publication statusPublished - May 8 2002


  • Bipolar disorder
  • Depressive disorder
  • Dopamine receptors
  • Serotonin transporter
  • Tryptophan hydroxylase

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


Dive into the research topics of 'Family-based association study of 5-HTTLPR, TPH, MAO-A, and DRD4 polymorphisms in mood disorders'. Together they form a unique fingerprint.

Cite this