Abstract
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.
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Abbreviations
- 5-HT:
-
5-hydroxytryptamine/serotonin
- 5-HTT:
-
serotonin transporter
- 5-HTTLPR:
-
serotonin transporter promoter polymorphism
- HWE:
-
Hardy-Weinberg Equilibrium
- SNP:
-
single-nucleotide polymorphism
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Acknowledgements
We are grateful to the Office of the Chief Medical Examiner, San Diego, CA, for assistance in the accrual of tissue samples.
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Supported by the CJ Foundation for SIDS, Scottish Cot Death Trust, Christopher James Murphy Foundation, Developmental Disabilities Research Center, Children's Hospital Boston (P30-HD18655), and NIH AR0 44345.
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Paterson, D., Rivera, K., Broadbelt, K. et al. Lack of Association of the Serotonin Transporter Polymorphism With the Sudden Infant Death Syndrome in the San Diego Dataset. Pediatr Res 68, 409–413 (2010). https://doi.org/10.1203/PDR.0b013e3181f2edf0
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DOI: https://doi.org/10.1203/PDR.0b013e3181f2edf0
