Opdal Siri H, Vege Åshild, Rognum Torleiv O
Department of Forensic Pathology, Norwegian Institute of Public Health, Oslo, Norway; Department of Pathology, Oslo University Hospital, Oslo, Norway.
Acta Paediatr. 2014 Apr;103(4):393-7. doi: 10.1111/apa.12526. Epub 2013 Dec 27.
The purpose of this study was to investigate common polymorphisms in the genes encoding monoamine oxidase A (MAOA) and serotonin transporter (5-HTT) in Norwegian cases of sudden infant death syndrome (SIDS). This was done to further elucidate the role of genetic variation in these genes and SIDS.
A variable number of tandem repeat area in the promoter of the MAOA gene and rs25531 in the promoter region of the gene encoding 5-HTT were investigated in 193 SIDS cases and 335 controls. The methods used were polymerase chain reaction, restriction fragment analysis and gel electrophoresis.
There were no differences between SIDS cases and controls for any of the investigated polymorphisms. This was also true when male and female SIDS cases were analysed separately.
This article indicates that neither the VNTR in the promoter of the MAOA gene, nor rs25531 in the gene encoding 5-HTT, is involved in SIDS. However, as medullary serotonergic abnormalities most likely contribute to the death in at least some SIDS cases, it is important to investigate these genes, as well as other genes involved in the serotonergic network, in more detail.
本研究旨在调查挪威婴儿猝死综合征（SIDS）病例中编码单胺氧化酶A（MAOA）和5-羟色胺转运体（5-HTT）的基因中的常见多态性。这样做是为了进一步阐明这些基因中的遗传变异与婴儿猝死综合征之间的关系。
在193例婴儿猝死综合征病例和335例对照中，研究了MAOA基因启动子中的可变串联重复序列区域以及编码5-HTT的基因启动子区域中的rs25531。所使用的方法包括聚合酶链反应、限制性片段分析和凝胶电泳。
在所研究的任何多态性方面，婴儿猝死综合征病例与对照之间均无差异。对男性和女性婴儿猝死综合征病例分别进行分析时，情况也是如此。
本文表明，MAOA基因启动子中的可变串联重复序列以及编码5-HTT的基因中的rs25531均与婴儿猝死综合征无关。然而，由于延髓5-羟色胺能异常很可能至少在某些婴儿猝死综合征病例的死亡中起作用，因此详细研究这些基因以及5-羟色胺能网络中的其他基因非常重要。
