The Journal of Pediatrics
Volume 156, Issue 1 , Pages 44-48.e1, January 2010

Impact of Sodium/Proton Exchanger 3 Gene Variants on Sudden Infant Death Syndrome

  • Micaela Poetsch, PhD

      Affiliations

    • Institute of Forensic Medicine, University Hospital Essen, Essen, Germany
    • Corresponding Author InformationReprint requests: Dr Micaela Poetsch, Institute of Forensic Medicine, University Hospital Essen, Hufelandstr. 55, D-45122 Essen, Germany.
    • ,
  • Bente J. Nottebaum, MD

      Affiliations

    • Institute of Forensic Medicine, University Hospital Essen, Essen, Germany
    • ,
  • Lisa Wingenfeld, MD

      Affiliations

    • Institute of Forensic Medicine, University Hospital Essen, Essen, Germany
    • ,
  • Stilla Frede, PhD

      Affiliations

    • Institute of Physiology, University Hospital Essen, Essen, Germany
    • ,
  • Mechtild Vennemann, PhD

      Affiliations

    • Institute of Legal Medicine, University of Münster, Münster, Germany
    • ,
  • Thomas Bajanowski, PhD

      Affiliations

    • Institute of Forensic Medicine, University Hospital Essen, Essen, Germany

Received 22 December 2008; received in revised form 21 May 2009; accepted 7 July 2009. published online 23 September 2009.

Objective

To determine the contribution of variations in the sodium/proton exchanger 3 (NHE3) gene in sudden infant death syndrome (SIDS).

Study design

Variations in the exons and promoter of the NHE3 gene were analyzed with direct sequencing analysis and mini sequencing (SNaPshot analysis) in 251 cases of SIDS, plus 50 infant control subjects who had died of other causes, and 170 healthy adults.

Results

The C2405T variant (exon 16) and 2 polymorphisms in the promoter (G1131A and C1197T) were encountered significantly more frequently in cases of SIDS than in control subjects. At least 1 of these 3 variants was detected in 49% of SIDS cases, but only in 30% of control subjects.

Conclusions

Our findings suggest the involvement of polymorphisms in the NHE3 gene and promoter in cases of SIDS, which may result in an overexpression of NHE3 in the medulla oblongata and which possibly leads to a disturbance in breathing control. Furthermore, our results underline the heterogeneous character of SIDS.

E2F, General transcription initiation factor, NHE3, Sodium/proton exchanger type 3, NHERF1, NHE regulating factor 1, PCR, Polymerase chain reaction, PP2A, Phosphatase 2A, SIDS, Sudden infant death syndrome

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 Funded by a grant from the IFORES program run by the Duisburg-Essen University Medical School and the German Federal Ministry of Science and Education (1998 and 2003). The authors declare no conflicts of interest.

PII: S0022-3476(09)00651-9

doi:10.1016/j.jpeds.2009.07.018

Refers to article:

  • Using Death Certificates to Characterize Sudden Infant Death Syndrome (SIDS): Opportunities and Limitations , 27 September 2009

    Carrie K. Shapiro-Mendoza, Shin Y. Kim, Susan Y. Chu, Emily Kahn, Robert N. Anderson
    The Journal of Pediatrics January 2010 (Vol. 156, Issue 1, Pages 38-43)

The Journal of Pediatrics
Volume 156, Issue 1 , Pages 44-48.e1, January 2010

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