International Journal of Legal Medicine

, Volume 129, Issue 5, pp 977–984

Polymorphisms in genes of respiratory control and sudden infant death syndrome

  • Katharina Läer
  • Thilo Dörk
  • Marielle Vennemann
  • Thomas Rothämel
  • Michael Klintschar
Original Article

DOI: 10.1007/s00414-015-1232-0

Cite this article as:
Läer, K., Dörk, T., Vennemann, M. et al. Int J Legal Med (2015) 129: 977. doi:10.1007/s00414-015-1232-0

Abstract

Sudden infant death syndrome (SIDS) is a multifactorial syndrome and assumingly, among other mechanisms, a deficit in respiratory control leads to a failure of arousal and autoresuscitation when the child is challenged by a stressful homeostatic event, e.g., hypoxia. We hypothesize that genetic polymorphisms involved in respiratory control mediated in the medulla oblongata contribute to SIDS. Therefore, a total of 366 SIDS cases and 421 controls were genotyped for 48 SNPs in 41 candidate genes. Genotyping was performed using Fluidigm nanofluidic technology. Results were obtained for 356 SIDS and 406 controls and 38 SNPs. After correction for multiple testing, one SNP retained a nominally significant association with seasonal SIDS: rs1801030 in the phenol sulfotransferase 1A1 gene (subgroup: death occurring during summer). A borderline association could be also observed for rs563649 in the opioid receptor μ1 gene in a recessive model (subgroup: death occurring during autumn). As a conclusion, although these data suggest two SNPs to be associated with different subgroups of SIDS cases, none of them can fully explain the SIDS condition, consistent with its multifactorial etiology. Given the great complexity of respiratory control and our initial findings reported here, we believe it is worthwhile to further investigate genes involved in the respiratory system.

Keywords

SIDS Respiratory control Gene association study Sulfotransferase 1A1 Opioid receptor μ1 

Supplementary material

414_2015_1232_MOESM1_ESM.xlsx (13 kb)
ESM Table 1Primer sequences developed for typing the SNP loci. ASP1 allele-specific primer 1, ASP2 allele-specific primer 2, LSP locus-specific primer, STA specific target (pre)amplification primer. The reaction involves a specific target preamplification using primers LSP and STA followed by a nested PCR using LSP, ASP1, and ASP2. (XLSX 12 kb)
414_2015_1232_MOESM2_ESM.xlsx (27 kb)
ESM Table 2Full results for the statistical analysis of 764 samples (358 SIDS and 406 controls) for 38 single nucleotide polymorphisms (SNPs) in genes involved in respiratory control. (XLSX 27 kb)

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Katharina Läer
    • 1
  • Thilo Dörk
    • 2
  • Marielle Vennemann
    • 1
    • 3
  • Thomas Rothämel
    • 1
  • Michael Klintschar
    • 1
  1. 1.Institute of Legal MedicineHannover Medical SchoolHannoverGermany
  2. 2.Gynaecology Research Unit, Clinics of Obstetrics and GynaecologyHannover Medical SchoolHannoverGermany
  3. 3.Institute of Legal MedicineUniversity Hospital MünsterMünsterGermany

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