Impact of Sodium/Proton Exchanger 3 Gene Variants on Sudden Infant Death Syndrome - 07/03/14
, Bente J. Nottebaum, MD a, Lisa Wingenfeld, MD a, Stilla Frede, PhD b, Mechtild Vennemann, PhD c, Thomas Bajanowski, PhD a
Reprint requests: Dr Micaela Poetsch, Institute of Forensic Medicine, University Hospital Essen, Hufelandstr. 55, D-45122 Essen, Germany.Abstract |
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.
Le texte complet de cet article est disponible en PDF.Mots-clés : E2F, NHE3, NHERF1, PCR, PP2A, SIDS
Plan
| 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. |
Vol 156 - N° 1
P. 44 - janvier 2010 Retour au numéro
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