Sudden infant death syndrome: Association with a promoter polymorphism of the serotonin transporter gene

Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Brion S. Maher, Jean M. Silvestri, Mark E. Curran, Mary L. Marazita

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114 Scopus citations


Serotonergic receptor binding in the arcuate nucleus, n. raphé obscurus, and other medullary regions is decreased in sudden infant death syndrome (SIDS) cases. Further, a variable tandem repeat sequence polymorphism in the promoter region of the serotonin transporter protein (5-HTT) gene has recently been associated with risk of SIDS in a Japanese cohort. This polymorphism differentially regulates 5-HTT expression, with the long allele (L), the SIDS-associated allele, being a more effective promoter than the short allele (S). We therefore investigated the 5-HTT promoter polymorphism in a cohort of 87 SIDS cases (43 African American and 44 Caucasian) and gender/ethnicitymatched controls. Significant positive associations were found between SIDS and the 5-HTT genotype distribution (P = 0.022), specifically with the L/L genotype (P = 0.048), and between SIDS and the 5-HTT L allele (P = 0.005). There was also a significant negative association between SIDS and the S/S genotype (P = 0.0 11). The comparisons were repeated in the African American and Caucasian subgroups. The data patterns were consistent in the subgroups, i.e., the L/L genotype and L allele were increased in the cases, but not all subgroup comparisons were statistically significant. These results indicate a relationship between SIDS and the L allele of the 5-HTT gene in African Americans and Caucasians, and if confirmed, will provide an important tool for identifying at-risk individuals and estimating the risk of recurrence.

Original languageEnglish (US)
Pages (from-to)268-274
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume117 A
Issue number3
StatePublished - Mar 15 2003
Externally publishedYes


  • 5HTT
  • Serotonin transporter
  • Sudden infant deatlh syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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