Osawa Motoki, Kimura Ryousuke, Hasegawa Iwao, Mukasa Nahoko, Satoh Fumiko
Department of Forensic Medicine, Tokai University School of Medicine, Isehara, Kanagawa 259-1193, Japan.
Leg Med (Tokyo). 2009 Apr;11 Suppl 1:S307-8. doi: 10.1016/j.legalmed.2009.01.065. Epub 2009 Mar 16.
One of the speculated causes for sudden infant death syndrome (SIDS) is hereditary disease, in which long QT in electrocardiogram has been investigated in the view of mutations in various ion channel genes. In the present study, a novel QT interval determinant of SNP (rs10494366) in NOS1AP is genotyped in SIDS subjects (n=42) and the control group (n=210). Subjects carrying TT genotype was significantly associated with SIDS, compared with those carrying the TG of GG genotype (95% confidence interval 1.28-8.45). Sequence analysis revealed that one non-synonymous substitution in exon 8 (rs12817159) was observed in one subject, in addition to six common SNPs in exons and introns. This postmortem association study showed variations in NOS1AP might be involved in occurrence of SIDS.
婴儿猝死综合征（SIDS）的推测病因之一是遗传性疾病，其中已从各种离子通道基因突变的角度对心电图中的长QT进行了研究。在本研究中，对42例SIDS受试者和210例对照组进行了一氧化氮合酶1衔接蛋白（NOS1AP）中一个新的单核苷酸多态性（SNP，rs10494366）的QT间期决定因素基因分型。与携带GG基因型的TG受试者相比，携带TT基因型的受试者与SIDS显著相关（95%置信区间1.28 - 8.45）。序列分析显示，除了外显子和内含子中的六个常见SNP外，在一名受试者中观察到外显子8中的一个非同义替换（rs12817159）。这项死后关联研究表明，NOS1AP的变异可能与SIDS的发生有关。
