title: Lack of association of the serotonin transporter polymorphism with the sudden infant death syndrome in the San Diego Dataset.
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.
authors.affiliation: Department of Pathology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA. david.paterson@childrens.harvarvd.edu
authors.forename: David S
authors.initials: DS
authors.lastname: Paterson
authors.forename: Keith D
authors.initials: KD
authors.lastname: Rivera
authors.forename: Kevin G
authors.initials: KG
authors.lastname: Broadbelt
authors.forename: Felicia L
authors.initials: FL
authors.lastname: Trachtenberg
authors.forename: Richard A
authors.initials: RA
authors.lastname: Belliveau
authors.forename: Ingrid A
authors.initials: IA
authors.lastname: Holm
authors.forename: Elisabeth A
authors.initials: EA
authors.lastname: Haas
authors.forename: Christina
authors.initials: C
authors.lastname: Stanley
authors.forename: Henry F
authors.initials: HF
authors.lastname: Krous
authors.forename: Hannah C
authors.initials: HC
authors.lastname: Kinney
authors.forename: Kyriacos
authors.initials: K
authors.lastname: Markianos
mesh_terms: D002140:California; D016208:Databases, Factual; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D011110:Polymorphism, Genetic; D012701:Serotonin / Q000378:metabolism; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*; D013398:Sudden Infant Death / Q000235:genetics*
chemical_list: D050486:Serotonin Plasma Membrane Transport Proteins; D012701:Serotonin