APOE rs769452 (Leu28Pro) IN OPEN TRAUMATIC BRAIN INJURY: EXPLORATORY FINDINGS AND AN UNRESOLVED MINOR ALLELE FREQUENCY DISCREPANCY

Abstract

Work on apolipoprotein E in traumatic brain injury has concentrated almost entirely on the epsilon 2, 3 and 4 haplotype system. Meta-analyses of the epsilon 4 allele have produced inconsistent estimates of its effect on outcome [1, 2], the association appears to differ between adults and children [3], and a separate line of evidence links the allele to late post-traumatic seizures [4]. The rs769452 variant is a different, far less studied coding substitution in the same gene, replacing leucine with proline at position 28. Most global reference panels report a minor allele frequency below one per cent for this variant, which has kept it out of clinical association studies. No data exist for populations of Central Asia.