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http://purl.uniprot.org/citations/28520217http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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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 (AQP4), Kir4.1 (KCNJ10) 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 AQP4 gene and a combination of the CC genotype in rs17375748, rs1130183, rs12133079 and rs1186688 in KCNJ10 (4xCC) were found to be associated with SIDS. The SIDS cases with the 4xCC SNP combination were younger than the SIDS cases with other genotype combinations (p = 0.006).

Conclusion

This study indicates that genetic variations in KCNJ10 and AQP4 may be predisposing factors for SIDS. Alterations in the expression of the AQP4/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."xsd:string
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http://purl.uniprot.org/citations/28520217http://purl.uniprot.org/core/author"Stray-Pedersen A."xsd:string
http://purl.uniprot.org/citations/28520217http://purl.uniprot.org/core/author"Rognum T.O."xsd:string
http://purl.uniprot.org/citations/28520217http://purl.uniprot.org/core/author"Opdal S.H."xsd:string
http://purl.uniprot.org/citations/28520217http://purl.uniprot.org/core/author"Vege A."xsd:string
http://purl.uniprot.org/citations/28520217http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/28520217http://purl.uniprot.org/core/name"Acta Paediatr"xsd:string
http://purl.uniprot.org/citations/28520217http://purl.uniprot.org/core/pages"1474-1480"xsd:string
http://purl.uniprot.org/citations/28520217http://purl.uniprot.org/core/title"The gene encoding the inwardly rectifying potassium channel Kir4.1 may be involved in sudden infant death syndrome."xsd:string
http://purl.uniprot.org/citations/28520217http://purl.uniprot.org/core/volume"106"xsd:string
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