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The gene encoding the inwardly rectifying potassium channel Kir4.1 may be involved in sudden infant death syndrome
Author(s) -
Opdal Siri H.,
Vege Åshild,
StrayPedersen Arne,
Rognum Torleiv O.
Publication year - 2017
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.13928
Subject(s) - medicine , sudden infant death syndrome , potassium channel , sudden death , gene , cardiology , pediatrics , genetics , biology
Aim Disturbances in brain function and development may play a role in sudden infant death syndrome ( SIDS ). This Norwegian study aimed to test the hypothesis that specific variants of genes involved in water transport and potassium homeostasis would be predisposing factors for SIDS . Methods Genetic variation in the genes encoding aquaporin‐4 ( AQP 4), Kir4.1 ( KCNJ 10) and α ‐syntrophin was analysed in 171 SIDS cases (62.6% male) with a median age of 15.5 (2–52) weeks and 398 adult controls (70.6% male) with a median age of 44 (11–91) years. All the subjects were Caucasians who were autopsied from 1988 to 2013. Results The CC genotype of rs72878794 in the AQP 4 gene and a combination of the CC genotype in rs17375748, rs1130183, rs12133079 and rs1186688 in KCNJ 10 (4x CC ) were found to be associated with SIDS . The SIDS cases with the 4x CC SNP combination were younger than the SIDS cases with other genotype combinations (p = 0.006). Conclusion This study indicates that genetic variations in KCNJ 10 and AQP 4 may be predisposing factors for SIDS . Alterations in the expression of the AQP 4/Kir4.1 complex can disrupt water and ion homeostasis, which may influence brain development and facilitate brain oedema formation This may be especially unfavourable during the first weeks of life.