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


METHODS
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.
Poetsch
Micaela
M
Institute of Forensic Medicine, University Hospital Essen, Essen, Germany. micaela.poetsch@uk-essen.de
Nottebaum
Bente J
BJ
Wingenfeld
Lisa
L
Frede
Stilla
S
Vennemann
Mechtild
M
Bajanowski
Thomas
T
D005091:Exons / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation / Q000502:physiology; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008297:Male; D008526:Medulla Oblongata; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic / Q000235:genetics; D000074083:Sodium-Hydrogen Exchanger 3; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics*; D013398:Sudden Infant Death / Q000235:genetics*
C000613385:SLC9A3 protein, human; D000074083:Sodium-Hydrogen Exchanger 3; D017923:Sodium-Hydrogen Exchangers