Aquaporin-1 and aquaporin-9 gene variations in sudden infant death syndrome

Int J Legal Med. 2021 May;135(3):719-725. doi: 10.1007/s00414-020-02493-9. Epub 2021 Jan 18.


Several studies have indicated that a vulnerability in the development and regulation of brain function is involved in sudden infant death syndrome (SIDS). The aim of this study was to investigate the genes encoding the brain aquaporins (AQPs) AQP1 and AQP9 in SIDS. The hypothesis was that specific variants of these genes are part of the genetic vulnerability predisposing infants to sudden unexpected death. The study included 168 SIDS cases with a median age of 15.5 (range 2-52) weeks and 372 adolescent/adult deceased controls with a median age of 44 (range 11-91) years. In the AQP1 gene, the rs17159702 CC/CT genotypes were found to be associated with SIDS (p = 0.02). In the AQP9 gene, the combination of a TT genotype of rs8042354, rs2292711 and rs13329178 was more frequent in SIDS cases than in controls (p = 0.03). In the SIDS group, an association was found between genetic variations in the AQP1 gene and maternal smoking and between the 3xTT combination in the AQP9 gene and being found lifeless in a prone position. In conclusion, this study adds further evidence to the involvement of brain aquaporins in SIDS, suggesting that specific variants of AQP genes constitute a genetic predisposition, making the infant vulnerable to sudden death together with external risk factors and probably other genetic factors.

Keywords: Aquaporin-1; Aquaporin-9; Genetic predisposition; SIDS; Sudden infant death syndrome.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Aquaporin 1 / genetics*
  • Aquaporins / genetics*
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Sudden Infant Death / genetics*
  • Young Adult


  • AQP1 protein, human
  • AQP9 protein, human
  • Aquaporins
  • Aquaporin 1