Ferrante Linda, Rognum Torleiv O, Vege Åshild, Nygård Ståle, Opdal Siri H
Department of Pediatric Forensic Medicine, Norwegian Institute of Public Health, Oslo, Norway.
Bioinformatics Core Facility, Institute for Medical Informatics, Oslo University Hospital, Oslo, Norway.
Pediatr Res. 2016 Jul;80(1):77-84. doi: 10.1038/pr.2016.45. Epub 2016 Mar 9.
A large number of studies have tried to uncover a genetic predisposition for sudden infant death syndrome (SIDS), but there is still uncertainty concerning the pathogenesis of these deaths. The purpose of this study was to investigate mRNA gene expression in SIDS cases and controls, in order to uncover genes that are differentially expressed in the two groups.
Tissue from brain, heart, and liver from 15 SIDS cases and 15 controls were included in the study, and mRNA expression was determined using the Illumina whole genome gene expression DASL HT assay.
Seventeen genes showed significantly altered expression compared to controls, after correction for multiple testing. Three genes involved in the immune system were of particular interest, including the downregulation of MyD88 in tissue from SIDS brains, as well as the downregulation of the genes encoding CCL3 and UNC13 in the liver.
These findings indicate that there is an altered expression of genes involved in the inflammatory process in a proportion of SIDS cases, which further strengthen the hypothesis that impaired immune response play a role in this syndrome.
大量研究试图揭示婴儿猝死综合征(SIDS)的遗传易感性,但这些死亡的发病机制仍存在不确定性。本研究的目的是调查SIDS病例和对照中的mRNA基因表达,以发现两组中差异表达的基因。
本研究纳入了15例SIDS病例和15例对照的脑、心脏和肝脏组织,并使用Illumina全基因组基因表达DASL HT分析来确定mRNA表达。
在进行多重检验校正后,有17个基因的表达与对照相比有显著改变。三个与免疫系统有关的基因特别值得关注,包括SIDS脑组组织中MyD88的下调,以及肝脏中编码CCL3和UNC13的基因的下调。
这些发现表明,一部分SIDS病例中参与炎症过程的基因表达发生了改变,这进一步强化了免疫反应受损在该综合征中起作用的假说。