2003 Fiscal Year Final Research Report Summary
Involvement of Serotonin Transporter gene Polymorphism In the pathogenesis of STDS
| Project/Area Number |
13670782
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | University of Tsukuba |
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Principal Investigator |
NARITA Masaaki University of Tsukuba, Basic Medical Sciences, Department Anatomy, Assistant Professor, 基礎医学系, 講師 (80302404)
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| Co-Investigator(Kenkyū-buntansha) |
NARITA Naoko University of Tsukuba, Basic Medical Sciences, Department Anatomy, Assistant Professor, 基礎医学系, 講師 (40306189)
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| Project Period (FY) |
2001 – 2003
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| Keywords | SIDS / serotonin / transporter / polymorphism |
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| Research Abstract |
Sudden infant death syndrome (SIDS) is defined as "the sudden death of infant which is unexpected by history, and in which a full postmortem examination fails to demonstrate an adequate cause of death." Dysfunction of neurotransmitter, serotonin (5-hydroxytryptamine) has been proposed for the pathogenesis of SIDS, although precise roles) of serotonin in SIDS has not been known. In addition, genetic factors had not been believed to be involved in SIDS. Recently, we first identified genetic risk factor for SIDS (Pediatrics, vol. 107, No.4, 690-692. 2001). There were, significant differences in allele frequency of the serotonin transporter (5HTT) gene polymorphism in the promoter region. Longer alleles (L and XL alleles) were more frequently found in SIDS victims than controls. We, therefore, have proposed that "the longer alleles (L and XL alleles) are genetic risk factor for SIDS". This hypothesis/observation was further supported by US group later (Weese-Mayer, et al., Am J Med Gen, 2003). Based on these results, we examined the efficiency in the transportation of 5HTT, revealing that allele dependent transcriptional activity in the 5HTT polymorphism. These results might lead to the possibility of SIDS prevention by neonatal genetic screening
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