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PEDIATRICS Vol. 107 No. 4 April 2001, pp. 690-692

Serotonin Transporter Gene Variation Is a Risk Factor for Sudden Infant Death Syndrome in the Japanese Population

Received Apr 13, 2000; accepted Jun 22, 2000.

Naoko Narita*, Dagger , Masaaki NaritaDagger , Sachio Takashima§, Masahiro Nakayamaparallel , Toshiro Nagai*, and Nobuo OkadoDagger

From the * Department of Pediatrics, Dokkyo University, School of Medicine, Koshigaya Hospital, Saitama, Japan; Dagger  Neurobiology Laboratory, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Japan; the § National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan; and parallel  Pathology and Laboratory Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.

Objective.  Serotonin (5-HT) in the nervous system is a major factor in facilitation of the brain center for respiration. Variations in the promoter region of the 5-HT transporter (5-HTT) gene have been shown to potentially regulate 5-HT activity in the brain. Therefore, we aimed to identify the possibility that specific allele variants of the 5-HTT gene can be found as a genetic background for sudden infant death syndrome (SIDS).

Methods.  Polymorphisms in the 5' regulatory region of the 5-HTT gene were determined in genomic DNA obtained from 27 SIDS victims and 115 age-matched health control participants.

Results.  There were significant differences in genotype distribution and allele frequency of the 5-HTT promoter gene between SIDS victims and age-matched control participants. The L and XL alleles were more frequently found in SIDS victims than in age-matched control participants.

Conclusion.  Efficiency in the transportation of 5-HTT with the L allele is known to be higher than that with the S allele. The excitatory function by 5-HT is considered to be lower in the respiratory center of individuals with the L allele compared with those with S allele. The XL allele variant has shown another novel biological risk factor for SIDS.  Key words:  sudden infant death syndrome, serotonin, serotonin transporter, promoter, polymorphism, allele variants, respiratory center.


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