Familial Migraine with Aura: Association Study with 5-HT1B/1D, 5-HT2C, and hSERT Polymorphisms

Marco Racchi, Massimo Leone, Emanuela Porrello, Andrea Rigamonti, Stefano Govoni, Marita Sironi, Cristina Montomoli, Gennaro Bussone

Research output: Contribution to journalArticlepeer-review


Background. - The serotonergic system has a significant role in the pathophysiology and pharmacology of migraine. Objective. - To study the association between the occurrence of migraine with aura and 5-HT 1B/1D and 5-HT2C receptor gene and the human serotonin transporter (hSERT) gene polymorphisms in 18 unrelated families with multiple affected members. Method. - Two polymorphisms in the 5-HT1B/1D receptor gene and one polymorphism in the 5-HT2C receptor gene were studied by restriction fragment length polymorphism analysis. Allelic variation of the hSERT, with 9, 10, and 12 copies of a "repetitive element," was studied by polymerase chain reaction amplification of the variable number tandem repeat region. Results. - Allelic distribution of 5-HT1B/1D and 5-HT2C receptor gene polymorphisms in affected patients did not differ in either of the control groups (unaffected relatives or unrelated healthy individuals). A trend toward a significant effect of the 12-repeat hSERT allele as a risk factor for migraine with aura versus unrelated controls was observed. Conclusion. - Our data do not support the involvement of 5-HT 1B/1D and 5-HT2C receptor gene polymorphisms in migraine with aura, yet do suggest a possible role for a locus at or near the hSERT gene in the susceptibility to migraine with aura.

Original languageEnglish
Pages (from-to)311-317
Number of pages7
Issue number4
Publication statusPublished - Apr 2004


  • Aura
  • Migraine
  • Polymorphism
  • Serotonin receptor
  • Serotonin transporter

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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