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The Genetics of Sudden Infant Death Syndrome—Towards a Gene Reference Resource

1
Department of Biology, Lund University, 22362 Lund, Sweden
2
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
3
Department of Animal and Plant Sciences, University of Sheffield, Sheffield S10 2TN, UK
4
National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Zhaohui S. Qin
Genes 2021, 12(2), 216; https://doi.org/10.3390/genes12020216
Received: 8 January 2021 / Revised: 21 January 2021 / Accepted: 29 January 2021 / Published: 2 February 2021
(This article belongs to the Section Technologies and Resources for Genetics)
Sudden infant death syndrome (SIDS) is the unexpected death of an infant under one year of age that remains unexplained after a thorough investigation. Despite SIDS remaining a diagnosis of exclusion with an unexplained etiology, it is widely accepted that SIDS can be caused by environmental and/or biological factors, with multiple underlying candidate genes. However, the lack of biomarkers raises questions as to why genetic studies on SIDS to date are unable to provide a clearer understanding of the disease etiology. We sought to improve the identification of SIDS-associated genes by reviewing the SIDS genetic literature and objectively categorizing and scoring the reported genes based on the strength of evidence (from C1 (high) to C5 (low)). This was followed by analyses of function, associations between genes, the enrichment of gene ontology (GO) terms, and pathways and gender difference in tissue gene expression. We constructed a curated database for SIDS gene candidates consisting of 109 genes, 14 of which received a category 4 (C4) and 95 genes received the lowest category of C5. That none of the genes was classified into the higher categories indicates the low level of supporting evidence. We found that genes of both scoring categories show distinct networks and are highly diverse in function and involved in many GO terms and pathways, in agreement with the perception of SIDS as a heterogeneous syndrome. Genes of both scoring categories are part of the cardiac system, muscle, and ion channels, whereas immune-related functions showed enrichment for C4 genes. A limited association was found with neural development. Overall, inconsistent reports and missing metadata contribute to the ambiguity of genetic studies. Considering those parameters could help improve the identification of at-risk SIDS genes. However, the field is still far from offering a full-pledged genetic test to identify at-risk infants and is still hampered with methodological challenges and misunderstandings of the vulnerabilities of vital biological mechanisms. View Full-Text
Keywords: sudden infant death syndrome (SIDS); cot death; annotation; pathway enrichment; network analysis sudden infant death syndrome (SIDS); cot death; annotation; pathway enrichment; network analysis
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MDPI and ACS Style

Johannsen, E.B.; Baughn, L.B.; Sharma, N.; Zjacic, N.; Pirooznia, M.; Elhaik, E. The Genetics of Sudden Infant Death Syndrome—Towards a Gene Reference Resource. Genes 2021, 12, 216. https://doi.org/10.3390/genes12020216

AMA Style

Johannsen EB, Baughn LB, Sharma N, Zjacic N, Pirooznia M, Elhaik E. The Genetics of Sudden Infant Death Syndrome—Towards a Gene Reference Resource. Genes. 2021; 12(2):216. https://doi.org/10.3390/genes12020216

Chicago/Turabian Style

Johannsen, Emma B.; Baughn, Linda B.; Sharma, Neeraj; Zjacic, Nicolina; Pirooznia, Mehdi; Elhaik, Eran. 2021. "The Genetics of Sudden Infant Death Syndrome—Towards a Gene Reference Resource" Genes 12, no. 2: 216. https://doi.org/10.3390/genes12020216

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