Document Detail

Aquaporin-4 gene variation and sudden infant death syndrome.
MedLine Citation:
PMID:  20351659     Owner:  NLM     Status:  MEDLINE    
The purpose of this study was to investigate the aquaporin-4 (AQP4) gene in cases of sudden infant death syndrome (SIDS) and controls and to elucidate the hypothesis that a genetically determined disturbed water homeostasis in the brain is involved as a predisposing factor in SIDS. The single nucleotide polymorphisms (SNPs) rs2075575, rs4800773, rs162004, and rs3763043 in the AQP4 gene were investigated in 141 SIDS cases and 179 controls. For each SIDS case, a brain/body weight ratio was calculated. The study revealed an association between the T allele and the CT/TT genotypes of rs2075575 and SIDS (C versus T, p < 0.01; CC versus CT/TT, p = 0.03). For the other three investigated SNPs, there were no differences in genotype frequencies between SIDS cases and controls. For the SNP rs2075575, it was also found an association between brain/body weight ratio and genotype in the SIDS cases aged 0.3-12 wk (p = 0.014, median ratio CC 10.6, CT/TT 12.1). In conclusion, this study indicates that rs2075575 may be of significance as a predisposing factor for SIDS, and that the CT/TT genotypes are associated with an increased brain/body weight ratio in infants dying from SIDS during the vulnerable period from birth up to 3 mo of age.
Siri H Opdal; Ashild Vege; Arne Stray-Pedersen; Torleiv O Rognum
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric research     Volume:  68     ISSN:  1530-0447     ISO Abbreviation:  Pediatr. Res.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-06-16     Completed Date:  2010-09-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  48-51     Citation Subset:  IM    
Institute of Forensic Medicine, University of Oslo, Oslo 0027, Norway.
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MeSH Terms
Aquaporin 4 / genetics*
Genetic Predisposition to Disease*
Polymorphism, Single Nucleotide*
Risk Factors
Sequence Analysis, DNA
Sudden Infant Death / genetics*
Water / metabolism*
Reg. No./Substance:
0/Aquaporin 4; 7732-18-5/Water

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