No association to sudden infant death syndrome detected by targeted amplicon sequencing of 24 genes

Abstract

Aim: The aim was to identify genetic variants associated with sudden infant death syndrome (SIDS) that can cause disease or introduce vulnerability. Genes reported in a previous SIDS study to have altered messenger ribonucleic acid (mRNA) expression in SIDS were investigated. Methods: Samples from 81 SIDS (56 male/28 female) with a median age of 4 months (range 0.75-9 months) were analysed using Illumina TruSeq custom amplicon for 24 selected genes. Samples were collected from autopsy at Oslo university hospital from children whom died suddenly and unexpectedly from 1988 to 2006. The controls were the germline variation database, Norgene (no description of cases available). Results: After filtering for rare variants, there were a total of 38 variants in the 81 SIDS cases and 462 variants in the 789 controls. After the filtration and curation steps, we found 36 rare variants. The overall occurrence of rare variants for all the SIDS samples was lower than for the Norgene population. Conclusion: There was no association between rare variants in the included genes and SIDS. Although not statistically significant, two of the SIDS cases had a rare variant in the MyD88 gene: rs746651350, rs200424253.

Polymorphisms of the hypothalamic–pituitary–adrenal axis may lead to an inadequate response to stress and contribute to sudden infant death syndrome

“…The most prominent are the locus ceruleusnorepinephrine-autonomic system, which regulates catecholamines, and the hypothalamic-pituitary-adrenal (HPA) axis, which regulates cortisol activity. 2 Although numerous genetic aspects of SIDS have been studied to date, [3][4][5][6] only a small number of genetic studies have investigated stress genes. These include a study on a functional polymorphism in the tyrosine hydroxylase gene that regulates the stress hormones epinephrine and norepinephrine, 7 and an exome-wide rare variant analysis that reported the potential involvement of ultra-rare variants in genes related to glucocorticoid biosynthesis.…”

Medical, Forensic and Social Quandaries of Sudden Infant Death Syndrome Today

“…Heart tissue samples obtained from the left ventricle show T cell infiltrates that require further immunochemistry and/or biomolecular testing to diagnose acute fatal myocarditis (Bajanowski et al, 2007). If family history is positive then metabolic and genetic investigations are required (Ferrante et al, 2020). Blood, bile and urine samples are also taken for genetic/molecular tests while fibroblast cultures are used to diagnose chromosome anomalies (Hashiyada et al, 2019).…”