Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the Japanese population
Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the Japanese population
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DOI：
10.1542/peds.107.4.690
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发表时间：
2001-04-01
期刊：
影响因子：
8
通讯作者：
Okado, N
中科院分区：
文献类型：
--
作者：
Narita, N;Narita, M;Okado, N
目标。神经系统中的5-羟色胺(5-羟色胺)是促进大脑中枢呼吸的主要因素。5-羟色胺转运体(5-HTT)基因启动子区域的变异已被证明可能调节大脑中的5-羟色胺活动。因此，我们的目的是确定5-HTT基因的特定等位基因变异作为婴儿猝死综合征(SID)的遗传背景的可能性。检测27例SIDS患者和115例年龄匹配的健康对照组的基因组DNA中5-HTT基因5‘调控区的多态性。5-HTT启动子基因的基因型分布和等位基因频率在SIDS患者和年龄匹配的对照组之间有显著差异。L和XL等位基因在婴儿猝死综合征患者中的分布频率高于年龄匹配的对照组。已知L等位基因对5-羟色胺的转运效率高于S等位基因。L等位基因携带者呼吸中枢5-羟色胺兴奋功能较S等位基因携带者低。XL等位基因变异显示了SID的另一个新的生物危险因素。
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.