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Updated: Jun 17, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
IL-1 gene cluster polymorphisms and sudden infant death syndrome
Linda Ferrante1, Siri H Opdal, Ashild Vege
1Institute of Forensic Medicine, Rikshospitalet, University of Oslo, Oslo, Norway. linda.ferrante@medisin.uio.no
Abstract:
Several studies indicate that interleukin gene polymorphisms are of importance to sudden infant death syndrome (SIDS), and so far it has been reported that associations between SIDS and polymorphism in the genes encoding tumor necrosis factor alpha, IL (interleukin)-6, and IL-10. IL-1 are important for the synthesis of acute phase proteins, and it is a pyrogen cytokine that may cause fever. The purpose of the present study was to investigate two polymorphisms in the IL-1alpha gene; a variable number of tandem repeat (VNTR) in intron 6 and a single nucleotide polymorphism in +4845G/T, as well as the -511C/T polymorphism in the gene encoding IL-1beta, and a VNTR in intron 2 of the competitive antagonist IL-1Ra, in SIDS cases, cases of infectious death, and controls. Furthermore, the genotypes were correlated with known external risk factors for SIDS. When investigating each polymorphism separately, no differences in genotype distribution between the diagnosis groups and controls were found. However, when combining VNTR and single nucleotide polymorphism genotypes, an association between the gene combination IL-1alpha VNTR A1A1/IL-1beta+ +4845TT and SIDS was disclosed (p < 0.01). In the SIDS group it was also found that the genotypes IL-1beta -511CC/CT were significantly more frequent in the SIDS victims found dead in a prone sleeping position, compared with SIDS victims found dead in other sleeping positions (p = 0.004). The findings in the present study indicate that specific interleukin gene variants may be a predisposing factor for sudden unexpected infant death.
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