科研之友
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摘要
AimApolipoprotein E (apoE) influences repair and other processes in the brain, and the apoE4 variant is a risk factor for Alzheimer's disease and for prolonged recovery following traumatic brain injury. We previously reported that specific single nucleotide polymorphisms in the APOE or TOMM40 genes affecting the structure and production of apoE were associated with epilepsy, more impaired hand function and gastrostomy tube feeding in children with cerebral palsy (CP). This study explored how various combinations of the same polymorphisms may affect these clinical manifestations. MethodsSuccessful DNA analyses of APOE and TOMM40 were carried out on 227 children. The CP Register of Norway provided details of gross and fine motor function, epilepsy and gastrostomy tube feeding. Possible associations between these clinical manifestations and various combinations of the APOE epsilon 2, epsilon 3 or epsilon 4 alleles and of the rs59007384 polymorphism in the TOMM40 gene were explored. ResultsEpilepsy, impaired fine motor function and gastrostomy tube feeding were less common in children carrying the combination of rs59007384 GG and APOE epsilon 2 or epsilon 3 than in children with other combinations. ConclusionOur findings suggest that specific combinations of genes influence the structure and production of apoE differently and affect the clinical manifestations of CP.
- 出版日期2015-7
