Lack of association of the serotonin transporter polymorphism with the sudden infant death syndrome in the San Diego Dataset

Pediatr Res. 2010 Nov;68(5):409-13. doi: 10.1203/PDR.0b013e3181f2edf0.


Dysfunction of medullary serotonin (5-HT)-mediated respiratory and autonomic function is postulated to underlie the pathogenesis of the majority of sudden infant death syndrome (SIDS) cases. Several studies have reported an increased frequency of the LL genotype and L allele of the 5-HT transporter (5-HTT) gene promoter polymorphism (5-HTTLPR), which is associated with increased transcriptional activity and 5-HT transport in vitro, in SIDS cases compared with controls. These findings raise the possibility that this polymorphism contributes to or exacerbates existing medullary 5-HT dysfunction in SIDS. In this study, we tested the hypothesis that the frequency of LL genotype and L allele are higher in 179 SIDS cases compared with 139 controls of multiple ethnicities in the San Diego SIDS Dataset. We observed no significant association of genotype or allele with SIDS cases either in the total cohort or on stratification for ethnicity. These observations do not support previous findings that the L allele and/or LL genotype of the 5-HTTLPR are associated with SIDS.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • California
  • Databases, Factual*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Infant
  • Male
  • Polymorphism, Genetic*
  • Serotonin / metabolism
  • Serotonin Plasma Membrane Transport Proteins / genetics*
  • Sudden Infant Death / genetics*


  • Serotonin Plasma Membrane Transport Proteins
  • Serotonin