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Sudden infant death syndrome: Association with a promoter polymorphism of the serotonin transporter gene
Author(s) -
WeeseMayer Debra E.,
BerryKravis Elizabeth M.,
Maher Brion S.,
Silvestri Jean M.,
Curran Mark E.,
Marazita Mary L.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20005
Subject(s) - genotype , allele , sudden infant death syndrome , serotonin transporter , serotonergic , genetics , biology , allele frequency , polymorphism (computer science) , cohort , medicine , endocrinology , gene , serotonin , receptor , pediatrics
Abstract 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/ethnicity‐matched 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 = 0.011). 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. © 2003 Wiley‐Liss, Inc.