title: Sodium/proton exchanger 3 (NHE3) and sudden infant death syndrome (SIDS).
abstract: The sodium/proton exchanger protein 3 (NHE3) is located in chemosensitive areas of the medulla oblongata and plays an important role in the central control of respiration. Overexpression of NHE3 is correlated with lower respiration and might therefore contribute to the vulnerability of infants dying suddenly and unexpected (sudden infant death syndrome, SIDS). Our aim in this study was to verify already reported genetic variations in the NHE3 gene in an independent SIDS cohort from Switzerland. Two single nucleotide polymorphisms (SNPs) in the promoter region (G1131A and C1197T) and one variation in the coding sequence of exon 16 (C2405T) in the NHE3 gene were analyzed in 160 Caucasian SIDS infants and 192 Swiss adult controls by using a single base extension method (SNaPshot multiplex). No significant differences were detected in the allelic frequencies of the three NHE3 polymorphisms between SIDS cases and controls. We conclude that the three investigated NHE3 SNPs are unlikely to play a major role in the pathogenesis of SIDS in Caucasian infants. However, further genetic investigations in different ethnicities are required to determine whether variations in NHE3 are associated with an increased SIDS risk.
authors.affiliation: Institute of Legal Medicine, University of Zurich, Winterthurerstrasse 190/52, 8057, Zurich, Switzerland, jacqueline.studer@irm.uzh.ch.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Studer
authors.forename: Christine
authors.initials: C
authors.lastname: Bartsch
authors.forename: Cordula
authors.initials: C
authors.lastname: Haas
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D000074083:Sodium-Hydrogen Exchanger 3; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics*; D013398:Sudden Infant Death / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C000613385:SLC9A3 protein, human; D000074083:Sodium-Hydrogen Exchanger 3; D017923:Sodium-Hydrogen Exchangers